Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

lipofuscinoses neuronal ceroid (NCLs) is the most common neurodegenerative disorder-onset period marked by autosomal recessive inheritance, epileptic seizures, progressive psychomotor damage, visual failure, and early death. At least seven subtypes of NCLs time-onset have been identified from which the final form of infantile-onset (LINCLs) is genetically most heterogeneous with four genes that underlie identified.

A variant form of LINCL (vLINCL) present in patients Turkey has been regarded as a clinical entity and different genetic (CLN7). However, we have recently demonstrated that mutations in the gene CLN8 account for a subset of Turkey vLINCL. Towards identifying genes CLN7 us here filtered NCL loci known homozygosity in a family of nine Turkish vLINCL.

This locus is issued in seven families who may represent the ‘true’ Turkish vLINCL. In two families, we identified two novel homozygous mutation in the gene CLN6: base substitution intronic (c.542 + 5G> T) affects splicing of the transcript and nonsense mutation (c.663C> G) creates a stop codon at Tyrosine 221. These data indicate that CLN6 mutations, other than those of CLN8, should be considered as a diagnostic alternative in patients Turkey vLINCL. The genetic background of the ‘true’ Turkish vLINCL, CLN7, still to be defined.

EDTA, disodium salt, dihydrate

EB0185 500g
EUR 84.01

EDTA disodium salt dihydrate

GE3023-100G 100 g
EUR 48

EDTA disodium salt dihydrate

GE3023-1KG 1 kg
EUR 84

EDTA disodium salt dihydrate

GE3023-250G 250 g
EUR 55.2

EDTA disodium salt dihydrate

GE3023-500G 500 g
EUR 64.8

EDTA disodium salt dihydrate

GE3023-5KG 5 kg
EUR 180

Tartaric acid (disodium dihydrate)

HY-D0850 500mg
EUR 129.6

Chromotropic Acid Disodium Salt Dihydrate

20-abx186412
  • EUR 393.60
  • EUR 276.00
  • 100 g
  • 25 g

Phenyl phosphate disodium salt dihydrate

GE1672-100G 100 g
EUR 180

Phenyl phosphate disodium salt dihydrate

GE1672-10G 10 g
EUR 62.4

Phenyl phosphate disodium salt dihydrate

GE1672-25G 25 g
EUR 88.8

Phenyl phosphate disodium salt dihydrate

GE1672-50G 50 g
EUR 118.8

a-Ketoglutaric acid, disodium salt dihydrate

KD0289 100g
EUR 87.14

2-Ketoglutaric acid disodium salt dihydrate

GE6119-100G 100 g
EUR 170.4

2-Ketoglutaric acid disodium salt dihydrate

GE6119-25G 25 g
EUR 79.2

EDTA, Disodium Dihydrate Salt Ultra Pure Grade

20-147 500g/Unit
EUR 366

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade

GE8581-1KG 1 kg
EUR 241.2

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade

GE8581-250G 250 g
EUR 103.2

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade

GE8581-500G 500 g
EUR 151.2

Azithromycin dihydrate

A024-25MG 25 mg
EUR 279.6

Quercetin dihydrate

A2552-100 100 mg
EUR 324
Description: Quercetin Dihydrate is the dihydrate preparation of Quercetin, a ubiquitous natural flavonoid with antiproliferative properties. Quercetin is described to inhibit PLA2 and PI 3-kinase (IC50 = 3.8 microM), blocking the ATP binding site of this kinase and i

Quercetin dihydrate

A2552-25 25 mg
EUR 150
Description: Quercetin Dihydrate is the dihydrate preparation of Quercetin, a ubiquitous natural flavonoid with antiproliferative properties. Quercetin is described to inhibit PLA2 and PI 3-kinase (IC50 = 3.8 microM), blocking the ATP binding site of this kinase and i

Quercetin dihydrate

A2552-5.1 10 mM (in 1mL DMSO)
EUR 157.2
Description: Quercetin Dihydrate is the dihydrate preparation of Quercetin, a ubiquitous natural flavonoid with antiproliferative properties. Quercetin is described to inhibit PLA2 and PI 3-kinase (IC50 = 3.8 microM), blocking the ATP binding site of this kinase and i

Alvimopan dihydrate

A3163-10 10 mg
EUR 512.4
Description: Alvimopan dihydrate is a selective antagonist of opioid receptor with IC50 value of 1.7 nM.Opioid receptor is a G protein-coupled receptor with opioids as ligands.

Alvimopan dihydrate

A3163-5 5 mg
EUR 343.2
Description: Alvimopan dihydrate is a selective antagonist of opioid receptor with IC50 value of 1.7 nM.Opioid receptor is a G protein-coupled receptor with opioids as ligands.

Alvimopan dihydrate

A3163-5.1 10 mM (in 1mL DMSO)
EUR 397.2
Description: Alvimopan dihydrate is a selective antagonist of opioid receptor with IC50 value of 1.7 nM.Opioid receptor is a G protein-coupled receptor with opioids as ligands.

Alvimopan dihydrate

A3163-50 50 mg
EUR 1399.2
Description: Alvimopan dihydrate is a selective antagonist of opioid receptor with IC50 value of 1.7 nM.Opioid receptor is a G protein-coupled receptor with opioids as ligands.

Cidofovir dihydrate

B1238-10 10 mg
EUR 129.6
Description: Cidofovir dehydrate is an injectable antiviral medication for the treatment of cytomegalovirus (CMV) retinitis, which suppresses virus replication by selective inhibition of viral DNA synthesis.

Cidofovir dihydrate

B1238-100 100 mg
EUR 240
Description: Cidofovir dehydrate is an injectable antiviral medication for the treatment of cytomegalovirus (CMV) retinitis, which suppresses virus replication by selective inhibition of viral DNA synthesis.

Cidofovir dihydrate

B1238-25 25 mg
EUR 157.2
Description: Cidofovir dehydrate is an injectable antiviral medication for the treatment of cytomegalovirus (CMV) retinitis, which suppresses virus replication by selective inhibition of viral DNA synthesis.

Cidofovir dihydrate

B1238-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Cidofovir dehydrate is an injectable antiviral medication for the treatment of cytomegalovirus (CMV) retinitis, which suppresses virus replication by selective inhibition of viral DNA synthesis.

Enalaprilat Dihydrate

B2204-10 10 mg
EUR 164.4
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Enalaprilat Dihydrate

B2204-100 100 mg
EUR 351.6
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Enalaprilat Dihydrate

B2204-50 50 mg
EUR 235.2
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Lisinopril dihydrate

B3290-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Lisinopril is a long-acting inhibitor of angiotensin converting enzyme (ACE) with IC50 value of 4.7nM [1].Lisinopril is a lysine analogue of MK 421.

Lisinopril dihydrate

B3290-50 50 mg
EUR 153.6
Description: Lisinopril is a long-acting inhibitor of angiotensin converting enzyme (ACE) with IC50 value of 4.7nM [1].Lisinopril is a lysine analogue of MK 421.

Lisinopril dihydrate

B3290-S Evaluation Sample
EUR 97.2
Description: Lisinopril is a long-acting inhibitor of angiotensin converting enzyme (ACE) with IC50 value of 4.7nM [1].Lisinopril is a lysine analogue of MK 421.

Azithromycin Dihydrate

B1669-5.1 10 mM (in 1mL DMSO)
EUR 184.8
Description: Azithromycin Dihydrate is an acid stable orally administered macrolide antimicrobial drug, structurally related to erythromycin.

Azithromycin Dihydrate

B1669-50 50 mg
EUR 224.4
Description: Azithromycin Dihydrate is an acid stable orally administered macrolide antimicrobial drug, structurally related to erythromycin.

Oxytetracycline Dihydrate

B2001-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate

B2001-50 50 mg
EUR 153.6
Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate

B2001-S Evaluation Sample
EUR 97.2
Description: Oxytetracycline Dihydrate

Cidofovir dihydrate

C202-10MG 10 mg
EUR 98.4

Cidofovir dihydrate

C202-50MG 50 mg
EUR 262.8

Oxytetracycline Dihydrate

O003-10G 10 g
EUR 85.2

Oxytetracycline Dihydrate

O003-50G 50 g
EUR 279.6

Hydrindantin dihydrate

GK5212-10G 10 g
EUR 93.6

Hydrindantin dihydrate

GK5212-25G 25 g
EUR 151.2

Hydrindantin dihydrate

GK5212-50G 50 g
EUR 237.6

Quercetin dihydrate

GP1387-100G 100 g
EUR 132

Quercetin dihydrate

GP1387-250G 250 g
EUR 208.8

Quercetin dihydrate

GP1387-25G 25 g
EUR 74.4

Quercetin dihydrate

GP1387-500G 500 g
EUR 322.8

Vildagliptin dihydrate

HY-14291A 100mg
EUR 198

Cidofovir (dihydrate)

HY-17438A 10mg
EUR 142.8

Lisinopril (dihydrate)

HY-18206A 500mg
EUR 170.4

Tauroursodeoxycholate dihydrate

HY-19696B 50mg
EUR 142.8

Alvimopan (dihydrate)

HY-76657A 50mg
EUR 721.2

Enalaprilat (dihydrate)

HY-B0231 100mg
EUR 267.6

Azithromycin dihydrate

GA2043-1G 1 g
EUR 151.2

Azithromycin dihydrate

GA2043-250MG 250 mg
EUR 84

Oxytetracycline dihydrate

GA7172-100G 100 g
EUR 217.2

Oxytetracycline dihydrate

GA7172-10G 10 g
EUR 70.8

Oxytetracycline dihydrate

GA7172-25G 25 g
EUR 93.6

Oxytetracycline dihydrate

GA7172-50G 50 g
EUR 141.6

Oxytetracycline dihydrate

GA7172-5G 5 g
EUR 58.8

Aminopterin dihydrate

GK2974-100MG 100 mg
EUR 206.4

Aminopterin dihydrate

GK2974-10MG 10 mg
EUR 72

Aminopterin dihydrate

GK2974-25MG 25 mg
EUR 90

Aminopterin dihydrate

GK2974-50MG 50 mg
EUR 128.4

Ceftibuten (dihydrate)

HY-B0698A 10mM/1mL
EUR 151.2

Quercetin (dihydrate)

HY-N0146 100mg
EUR 267.6

Quercetin Dihydrate

TBZ2533 20mg Ask for price

Phlorizin dihydrate

TBZ2935 20mg Ask for price

Lisinopril dihydrate

B2132-250 each
EUR 352.8

Lisinopril dihydrate

B2132-50 each
EUR 157.2

Quercetin, Dihydrate

1773-1000 each
EUR 261.6

Quercetin, Dihydrate

1773-250 each
EUR 124.8

Pamidronate Disodium

A2456-5.1 10 mM (in 1mL H2O)
EUR 129.6
Description: A bisphosphonate antiresorptive agent and a bone resorption inhibitor.

Pamidronate Disodium

A2456-50 50 mg
EUR 153.6
Description: A bisphosphonate antiresorptive agent and a bone resorption inhibitor.

R788 disodium

A8332-10 10 mg
EUR 309.6
Description: R788, which is the prodrug of R406, is a potnet and selective Syk inhibitor. The spleen tyrosine kinase (Syk) plays a key role in the signaling of activating Fc receptors and the B-cell receptor (BCR).

R788 disodium

A8332-100 100 mg
EUR 1104
Description: R788, which is the prodrug of R406, is a potnet and selective Syk inhibitor. The spleen tyrosine kinase (Syk) plays a key role in the signaling of activating Fc receptors and the B-cell receptor (BCR).

R788 disodium

A8332-5 5 mg
EUR 226.8
Description: R788, which is the prodrug of R406, is a potnet and selective Syk inhibitor. The spleen tyrosine kinase (Syk) plays a key role in the signaling of activating Fc receptors and the B-cell receptor (BCR).

R788 disodium

A8332-50 50 mg
EUR 686.4
Description: R788, which is the prodrug of R406, is a potnet and selective Syk inhibitor. The spleen tyrosine kinase (Syk) plays a key role in the signaling of activating Fc receptors and the B-cell receptor (BCR).

R788 disodium

A8332-S Evaluation Sample
EUR 97.2
Description: R788, which is the prodrug of R406, is a potnet and selective Syk inhibitor. The spleen tyrosine kinase (Syk) plays a key role in the signaling of activating Fc receptors and the B-cell receptor (BCR).

Carbenoxolone disodium

A8389-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Carbenoxolone disodium is an inhibitor of 11?-hydroxysteroid dehydrogenase (11?-HSD) [1].11?-HSD is a family of enzymes that regulating the access of glucocorticoids to the steroid receptors.

Carbenoxolone disodium

A8389-50 50 mg
EUR 123.6
Description: Carbenoxolone disodium is an inhibitor of 11?-hydroxysteroid dehydrogenase (11?-HSD) [1].11?-HSD is a family of enzymes that regulating the access of glucocorticoids to the steroid receptors.

Etidronate disodium

20-abx181287
  • EUR 1161.60
  • EUR 477.60
  • 25 g
  • 5 g

Pemetrexed disodium

20-abx184749
  • EUR 895.20
  • EUR 1296.00
  • 10 g
  • 20g

Lobenzarit Disodium

20-abx188758
  • EUR 1045.20
  • EUR 2749.20
  • 1 g
  • 5 g

Clodronate Disodium

B1709-50 50 mg
EUR 153.6
Description: Clodronate Disodium, a bisphosphonate, is a potent antiosteolytic agent which inhibits bone resorption.

Cefotetan Disodium

C117-100MG 100mg
EUR 112.8

Cefotetan Disodium

C117-1G 1g
EUR 597.6

Gadoxetate (Disodium)

HY-16219 10mg
EUR 267.6

Transcrocetinate disodium

HY-16502 50mg
EUR 680.4

Fosbretabulin (disodium)

HY-17449 50mg
EUR 639.6

Tiludronate (disodium)

HY-A0213A 10mg
EUR 404.4

Pamidronate (Disodium)

HY-B0012A 50mg
EUR 192

Olsalazine (Disodium)

HY-B0174 500mg
EUR 129.6

Carbenicillin (disodium)

HY-B0525A 250mg
EUR 129.6

Eprodisate (disodium)

HY-B1141 100mg
EUR 142.8

Ticarcillin (disodium)

HY-B1175 100mg
EUR 142.8

Fosphenytoin (disodium)

HY-B1657A 10mM/1mL
EUR 151.2

Phosphocreatine (disodium)

HY-D0885B 100mg
EUR 129.6

Phosphoramidon (Disodium)

HY-N2021A 50mg
EUR 1480.8

Pemetrexed (disodium)

HY-10820A 10mM/1mL
EUR 151.2

Fostamatinib Disodium

HY-13038 100mg
EUR 1035.6

Temocillin Disodium

T130-100MG 100 mg
EUR 1183.2

Temocillin Disodium

T130-10MG 10 mg
EUR 322.8

Ticarcillin Disodium

B1536-1G each
EUR 248.4

Ticarcillin Disodium

B1536-5G each
EUR 705.6

Pamidronate disodium

1884-250 each
EUR 464.4

Pamidronate disodium

1884-50 each
EUR 164.4

Fostamatinib Disodium

1936-1 each
EUR 189.6

Fostamatinib Disodium

1936-5 each
EUR 574.8

Carbenicillin disodium

2485-10G each
EUR 705.6

Carbenicillin disodium

2485-1G each
EUR 183.6

Carbenicillin disodium

2485-5G each
EUR 444

D-(+)-Trehalose dihydrate

abx082139-25g 25 g
EUR 260.4

D-(+)-Trehalose dihydrate

abx082202-5g 5 g
EUR 226.8

D-(+)-Trehalose dihydrate

abx082324-5g 5 g
EUR 226.8

Tetraethylammonium fluoride dihydrate

20-abx184422
  • EUR 343.20
  • EUR 260.40
  • EUR 610.80
  • 100 g
  • 25 g
  • 500 g

Lithium acetate dihydrate

abx184715-500g 500 g
EUR 243.6

Alizarin complexone dihydrate

20-abx186370
  • EUR 661.20
  • EUR 292.80
  • EUR 477.60
  • 10 g
  • 1 g
  • 5 g

Calcium Levulinate Dihydrate

20-abx186404
  • EUR 861.60
  • EUR 427.20
  • EUR 260.40
  • 100 g
  • 25 g
  • 5 g

1,3,5-Trihydroxybenzene Dihydrate

abx188091-1000g 1000 g
EUR 978

Amodiaquine dihydrochloride dihydrate

B6134-100 100 mg
EUR 153.6

Amodiaquine dihydrochloride dihydrate

B6134-500 500 mg
EUR 348

Ondansetron hydrochloride dihydrate

B1204-10 10 mg
EUR 129.6
Description: Ondansetron is a serotonin 5-HT3 receptor antagonist used mainly as anantiemetic (to treat nausea and vomiting), often following chemotherapy.

Ondansetron hydrochloride dihydrate

B1204-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Ondansetron is a serotonin 5-HT3 receptor antagonist used mainly as anantiemetic (to treat nausea and vomiting), often following chemotherapy.

Ondansetron hydrochloride dihydrate

B1204-50 50 mg
EUR 177.6
Description: Ondansetron is a serotonin 5-HT3 receptor antagonist used mainly as anantiemetic (to treat nausea and vomiting), often following chemotherapy.

Succinylcholine Chloride Dihydrate

B1595-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Succinylcholine Chloride Dihydrate is a nicotinic AChR agonist and also acts as a depolarizing neuromuscular blocker.

Calcium chloride dihydrate

B7290-1000000 1000 g
EUR 129.6
Description: Calcium Chloride is a widely used reagent in the research of biochemistry. Calcium play roles of great importance in physiological function, including signal transmitting, muscle contraction, and maintenance of cell morphology and stability.

Barium chloride dihydrate

BC2020 500g
EUR 76.7

Quinine HCl Dihydrate

B2123-10 10 mg
EUR 153.6
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate

B2123-5.1 10 mM (in 1mL DMSO)
EUR 151.2
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate

B2123-50 50 mg
EUR 321.6
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate

B2123-S Evaluation Sample
EUR 97.2
Description: Quinine HCl Dihydrate

Amiloride HCl dihydrate

B2268-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Amiloride HCl dihydrate

B2268-50 50 mg
EUR 153.6
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Amiloride HCl dihydrate

B2268-S Evaluation Sample
EUR 97.2
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Pefloxacin Mesylate Dihydrate

B2291-100 100 mg
EUR 115.2
Description: Pefloxacin mesylate dehydrate is a an antibacterial agent and prevents bacterial DNA replication by inhibiting DNA gyrase (topoisomerse)

Pefloxacin Mesylate Dihydrate

B2291-10000 10 g
EUR 129.6
Description: Pefloxacin mesylate dehydrate is a an antibacterial agent and prevents bacterial DNA replication by inhibiting DNA gyrase (topoisomerse)

Pefloxacin Mesylate Dihydrate

B2291-5.1 10 mM (in 1mL DMSO)
EUR 129.6
Description: Pefloxacin mesylate dehydrate is a an antibacterial agent and prevents bacterial DNA replication by inhibiting DNA gyrase (topoisomerse)

Pefloxacin Mesylate Dihydrate

B2291-50000 50 g
EUR 268.8
Description: Pefloxacin mesylate dehydrate is a an antibacterial agent and prevents bacterial DNA replication by inhibiting DNA gyrase (topoisomerse)

Ripasudil hydrochloride dihydrate

B2984-1 1mg
EUR 175.2

Ripasudil hydrochloride dihydrate

B2984-5 5mg
EUR 514.8

Calcium sulfate, dihydrate

CB0265 500g
EUR 82.97

Calcium chloride, dihydrate

CD0050 500g
EUR 80.88

Pefloxacin mesylate dihydrate

P004-10G 10g
EUR 94.8

Pefloxacin mesylate dihydrate

P004-50G 50g
EUR 272.4

Oxalic acid, dihydrate

OD0400(D0400) 250g
EUR 74.62

Quercetin dihydrate(Sophoretin)

E1KS2347 25mg
EUR 471.6

Barium chloride dihydrate

GK4364-100G 100 g
EUR 46.8

Barium chloride dihydrate

GK4364-1KG 1 kg
EUR 73.2

Barium chloride dihydrate

GK4364-250G 250 g
EUR 51.6

Barium chloride dihydrate

GK4364-500G 500 g
EUR 60

Barium chloride dihydrate

GK4364-5KG 5 kg
EUR 175.2

Calcium sulfate dihydrate

GK5062-1KG 1 kg
EUR 64.8

Calcium sulfate dihydrate

GK5062-250G 250 g
EUR 49.2