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
GE3023-1KG 1 kg
EUR 70

EDTA disodium salt dihydrate
GE3023-250G 250 g
EUR 46

EDTA disodium salt dihydrate
GE3023-500G 500 g
EUR 54

EDTA disodium salt dihydrate
GE3023-5KG 5 kg
EUR 150

EDTA, Disodium Salt, Dihydrate
CH032 500 g
EUR 163

EDTA, Disodium Salt, Dihydrate
CH033 1.0 kg
EUR 195

EDTA, Disodium Salt, Dihydrate
CH034 2.5 kg
EUR 334

Phenyl phosphate disodium salt dihydrate
GE1672-50G 50 g
EUR 99

Phenyl phosphate disodium salt dihydrate
GE1672-100G 100 g
EUR 150

Phenyl phosphate disodium salt dihydrate
GE1672-10G 10 g
EUR 52

Phenyl phosphate disodium salt dihydrate
GE1672-25G 25 g
EUR 74

Chromotropic Acid Disodium Salt Dihydrate
20-abx186412
  • EUR 328.00
  • EUR 230.00
  • 100 g
  • 25 g

a-Ketoglutaric acid, disodium salt dihydrate
KD0289 100g
EUR 72.62

2-Ketoglutaric acid disodium salt dihydrate
GE6119-100G 100 g
EUR 142

2-Ketoglutaric acid disodium salt dihydrate
GE6119-25G 25 g
EUR 66

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-1KG 1 kg
EUR 201

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-250G 250 g
EUR 86

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-500G 500 g
EUR 126

Oxytetracycline Dihydrate
O003-10G 10 g
EUR 71

Oxytetracycline Dihydrate
O003-50G 50 g
EUR 233

Vildagliptin dihydrate
HY-14291A 100mg
EUR 165

Cidofovir (dihydrate)
HY-17438A 10mg
EUR 119

Lisinopril (dihydrate)
HY-18206A 500mg
EUR 142

Tauroursodeoxycholate dihydrate
HY-19696B 50mg
EUR 119

Alvimopan (dihydrate)
HY-76657A 50mg
EUR 601

Enalaprilat (dihydrate)
HY-B0231 100mg
EUR 223

Ceftibuten (dihydrate)
HY-B0698A 10mM/1mL
EUR 126

Quercetin (dihydrate)
HY-N0146 100mg
EUR 223

Azithromycin dihydrate
GA2043-1G 1 g
EUR 126

Azithromycin dihydrate
GA2043-250MG 250 mg
EUR 70

Oxytetracycline dihydrate
GA7172-100G 100 g
EUR 181

Oxytetracycline dihydrate
GA7172-10G 10 g
EUR 59

Oxytetracycline dihydrate
GA7172-25G 25 g
EUR 78

Oxytetracycline dihydrate
GA7172-50G 50 g
EUR 118

Oxytetracycline dihydrate
GA7172-5G 5 g
EUR 49

Aminopterin dihydrate
GK2974-50MG 50 mg
EUR 107

Hydrindantin dihydrate
GK5212-10G 10 g
EUR 78

Hydrindantin dihydrate
GK5212-25G 25 g
EUR 126

Hydrindantin dihydrate
GK5212-50G 50 g
EUR 198

Aminopterin dihydrate
GK2974-100MG 100 mg
EUR 172

Aminopterin dihydrate
GK2974-10MG 10 mg
EUR 60

Aminopterin dihydrate
GK2974-25MG 25 mg
EUR 75

Quercetin dihydrate
GP1387-100G 100 g
EUR 110

Quercetin dihydrate
GP1387-250G 250 g
EUR 174

Quercetin dihydrate
GP1387-25G 25 g
EUR 62

Quercetin dihydrate
GP1387-500G 500 g
EUR 269

Cidofovir dihydrate
C202-10MG 10 mg
EUR 82

Cidofovir dihydrate
C202-50MG 50 mg
EUR 219

Azithromycin dihydrate
A024-25MG 25 mg
EUR 233

Lisinopril dihydrate
B3290-5.1 10 mM (in 1mL DMSO)
EUR 108
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 128
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 81
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.

Cidofovir dihydrate
B1238-10 10 mg
EUR 108
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 200
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 131
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 108
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.

Azithromycin Dihydrate
B1669-5.1 10 mM (in 1mL DMSO)
EUR 154
Description: Azithromycin Dihydrate is an acid stable orally administered macrolide antimicrobial drug, structurally related to erythromycin.

Azithromycin Dihydrate
B1669-50 50 mg
EUR 187
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 108
Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate
B2001-50 50 mg
EUR 128
Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate
B2001-S Evaluation Sample
EUR 81
Description: Oxytetracycline Dihydrate

Enalaprilat Dihydrate
B2204-10 10 mg
EUR 137
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Enalaprilat Dihydrate
B2204-100 100 mg
EUR 293
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Enalaprilat Dihydrate
B2204-50 50 mg
EUR 196
Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

Quercetin dihydrate
A2552-100 100 mg
EUR 270
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 125
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 131
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 427
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 286
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 331
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 1166
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.

Quercetin Dihydrate
TBZ2533 20mg Ask for price

Phlorizin dihydrate
TBZ2935 20mg Ask for price

Lisinopril dihydrate
B2132-250
EUR 294

Lisinopril dihydrate
B2132-50
EUR 131

Quercetin, Dihydrate
1773-1000
EUR 218

Quercetin, Dihydrate
1773-250
EUR 104

Gadoxetate (Disodium)
HY-16219 10mg
EUR 223

Transcrocetinate disodium
HY-16502 50mg
EUR 567

Fosbretabulin (disodium)
HY-17449 50mg
EUR 533

Tiludronate (disodium)
HY-A0213A 10mg
EUR 337

Pamidronate (Disodium)
HY-B0012A 50mg
EUR 160

Olsalazine (Disodium)
HY-B0174 500mg
EUR 108

Carbenicillin (disodium)
HY-B0525A 250mg
EUR 108

Pemetrexed (disodium)
HY-10820A 10mM/1mL
EUR 126

Fostamatinib Disodium
HY-13038 100mg
EUR 863

Phosphoramidon (Disodium)
HY-N2021A 50mg
EUR 1234

Eprodisate (disodium)
HY-B1141 100mg
EUR 119

Ticarcillin (disodium)
HY-B1175 100mg
EUR 119

Fosphenytoin (disodium)
HY-B1657A 10mM/1mL
EUR 126

Phosphocreatine (disodium)
HY-D0885B 100mg
EUR 108

Temocillin Disodium
T130-100MG 100 mg
EUR 986

Temocillin Disodium
T130-10MG 10 mg
EUR 269

Lobenzarit Disodium
20-abx188758
  • EUR 871.00
  • EUR 2291.00
  • 1 g
  • 5 g

Cefotetan Disodium
C117-100MG 100mg
EUR 94

Cefotetan Disodium
C117-1G 1g
EUR 498

Etidronate disodium
20-abx181287
  • EUR 968.00
  • EUR 398.00
  • 25 g
  • 5 g

Pemetrexed disodium
20-abx184749
  • EUR 746.00
  • EUR 1080.00
  • 10 g
  • 20g

Clodronate Disodium
B1709-50 50 mg
EUR 128
Description: Clodronate Disodium, a bisphosphonate, is a potent antiosteolytic agent which inhibits bone resorption.

R788 disodium
A8332-10 10 mg
EUR 258
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 920
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 189
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 572
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 81
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 108
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 103
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.

Pamidronate Disodium
A2456-5.1 10 mM (in 1mL H2O)
EUR 108
Description: A bisphosphonate antiresorptive agent and a bone resorption inhibitor.

Pamidronate Disodium
A2456-50 50 mg
EUR 128
Description: A bisphosphonate antiresorptive agent and a bone resorption inhibitor.

Ticarcillin Disodium
B1536-1G
EUR 207

Ticarcillin Disodium
B1536-5G
EUR 588

Pamidronate disodium
1884-250
EUR 387

Pamidronate disodium
1884-50
EUR 137

Fostamatinib Disodium
1936-1
EUR 158

Fostamatinib Disodium
1936-5
EUR 479

Carbenicillin disodium
2485-10G
EUR 588

Carbenicillin disodium
2485-1G
EUR 153

Carbenicillin disodium
2485-5G
EUR 370

Sodium tungstate, dihydrate
S0898 250g
EUR 109.16

Sodium nitroprusside dihydrate
SB0867 50g
EUR 70.01

Pefloxacin mesylate dihydrate
P004-10G 10g
EUR 79

Pefloxacin mesylate dihydrate
P004-50G 50g
EUR 227

Oxalic acid, dihydrate
OD0400(D0400) 250g
EUR 62.18

Ondansetron (hydrochloride dihydrate)
HY-B0002A 50mg
EUR 119

Pefloxacin (mesylate dihydrate)
HY-B0147B 500mg
EUR 173

Amiloride hydrochloride dihydrate
HY-B0285B 10mM/1mL
EUR 126

Terazosin (hydrochloride dihydrate)
HY-B0371A 100mg
EUR 131

Quinine (hydrochloride dihydrate)
HY-B0433A 10mM/1mL
EUR 113

D-(+)-Trehalose dihydrate
HY-N1132A 10mM/1mL
EUR 113

Oxalic acid dihydrate
HY-Y1297 100mg
EUR 108

Amodiaquin (dihydrochloride dihydrate)
HY-B1322 10mM/1mL
EUR 126

Tolmetin (sodium dihydrate)
HY-B1489 100mg
EUR 119

Sodium citrate dihydrate
HY-B1610 1g
EUR 119

Quercetin dihydrate(Sophoretin)
E1KS2347 25mg
EUR 393

D-(+)-Trehalose dihydrate
GC7900-1KG 1 kg
EUR 205

D-(+)-Trehalose dihydrate
GC7900-500G 500 g
EUR 138

Zinc citrate dihydrate
GE1507-1KG 1 kg
EUR 138

Adenine sulfate dihydrate
GE2110-100G 100 g
EUR 221

D-(+)-Trehalose dihydrate
GC7900-100G 100 g
EUR 70

D-(+)-Trehalose dihydrate
GC7900-250G 250 g
EUR 94

D-(+)-Trehalose dihydrate
GC7900-25G 25 g
EUR 50

Pefloxacin mesylate dihydrate
GA7231-25G 25 g
EUR 126

Pefloxacin mesylate dihydrate
GA7231-5G 5 g
EUR 62

Quinine hydrochloride dihydrate
GA8217-100G 100 g
EUR 150

Quinine hydrochloride dihydrate
GA8217-25G 25 g
EUR 78

Sodium citrate dihydrate
GK0137-100G 100 g
EUR 40

Sodium citrate dihydrate
GK0137-1KG 1 kg
EUR 61

Sodium citrate dihydrate
GK0137-250G 250 g
EUR 44

Sodium citrate dihydrate
GK0137-500G 500 g
EUR 52

Sodium citrate dihydrate
GK0137-5KG 5 kg
EUR 142

Sodium tartrate dihydrate
GK1687-250G 250 g
EUR 56

Sodium tartrate dihydrate
GK1687-500G 500 g
EUR 74

Barium chloride dihydrate
GK4364-100G 100 g
EUR 39

Barium chloride dihydrate
GK4364-1KG 1 kg
EUR 61

Barium chloride dihydrate
GK4364-250G 250 g
EUR 43

Barium chloride dihydrate
GK4364-500G 500 g
EUR 50

Barium chloride dihydrate
GK4364-5KG 5 kg
EUR 146

Calcium sulfate dihydrate
GK5062-1KG 1 kg
EUR 54

Calcium sulfate dihydrate
GK5062-250G 250 g
EUR 41

Calcium sulfate dihydrate
GK5062-5KG 5 kg
EUR 102

Sodium tungstate dihydrate
GK6152-100G 100 g
EUR 66