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)

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EUR 223

Transcrocetinate disodium

HY-16502 50mg
EUR 567

Fosbretabulin (disodium)

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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
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Pemetrexed (disodium)

HY-10820A 10mM/1mL
EUR 126

Fostamatinib Disodium

HY-13038 100mg
EUR 863

Phosphoramidon (Disodium)

HY-N2021A 50mg
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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