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
CH033 1.0 kg
EUR 195

Tartaric acid (disodium dihydrate)
HY-D0850 500mg
EUR 108

EDTA disodium salt dihydrate
GE3023-100G 100 g
EUR 40

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
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EDTA disodium salt dihydrate
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EDTA, disodium salt, dihydrate
EB0185 500g
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Chromotropic Acid Disodium Salt Dihydrate
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Phenyl phosphate disodium salt dihydrate
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Phenyl phosphate disodium salt dihydrate
GE1672-10G 10 g
EUR 52

Phenyl phosphate disodium salt dihydrate
GE1672-25G 25 g
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Phenyl phosphate disodium salt dihydrate
GE1672-50G 50 g
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2-Ketoglutaric acid disodium salt dihydrate
GE6119-100G 100 g
EUR 142

2-Ketoglutaric acid disodium salt dihydrate
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a-Ketoglutaric acid, disodium salt dihydrate
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EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
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EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
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EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
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Quercetin, Dihydrate
1773-1000
EUR 218

Quercetin, Dihydrate
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Azithromycin Dihydrate
B1669-25 25 mg
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Azithromycin Dihydrate
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Oxytetracycline Dihydrate
B2001-5.1 10 mM (in 1mL DMSO)
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Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate
B2001-50 50 mg
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Description: Oxytetracycline Dihydrate

Oxytetracycline Dihydrate
B2001-S Evaluation Sample
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Description: Oxytetracycline Dihydrate

Lisinopril dihydrate
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Lisinopril dihydrate
B2132-50
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Enalaprilat Dihydrate
B2204-10 10 mg
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Description: Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor with IC50 of 1.94 nM.

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

Enalaprilat Dihydrate
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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)
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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
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Lisinopril dihydrate
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Cidofovir dihydrate
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Cidofovir dihydrate
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Cidofovir dihydrate
B1238-25 25 mg
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Cidofovir dihydrate
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Azithromycin dihydrate
A024-25MG 25 mg
EUR 233

Cidofovir dihydrate
C202-10MG 10 mg
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Cidofovir dihydrate
C202-50MG 50 mg
EUR 219

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
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Alvimopan dihydrate
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Quercetin dihydrate
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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)
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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

Vildagliptin dihydrate
HY-14291A 100mg
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Cidofovir (dihydrate)
HY-17438A 10mg
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HY-18206A 500mg
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Tauroursodeoxycholate dihydrate
HY-19696B 50mg
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HY-76657A 50mg
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Enalaprilat (dihydrate)
HY-B0231 100mg
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Quercetin (dihydrate)
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Quercetin dihydrate
GP1387-100G 100 g
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GP1387-250G 250 g
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Quercetin dihydrate
GP1387-25G 25 g
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GP1387-500G 500 g
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Azithromycin dihydrate
GA2043-1G 1 g
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Azithromycin dihydrate
GA2043-250MG 250 mg
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Oxytetracycline dihydrate
GA7172-100G 100 g
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Oxytetracycline dihydrate
GA7172-10G 10 g
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Oxytetracycline dihydrate
GA7172-25G 25 g
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Oxytetracycline dihydrate
GA7172-50G 50 g
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Oxytetracycline dihydrate
GA7172-5G 5 g
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Aminopterin dihydrate
GK2974-100MG 100 mg
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Aminopterin dihydrate
GK2974-10MG 10 mg
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TBZ2533 20mg Ask for price

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Pamidronate disodium
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Pamidronate disodium
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Fostamatinib Disodium
1936-1
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Ticarcillin Disodium
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Clodronate Disodium
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Description: Clodronate Disodium, a bisphosphonate, is a potent antiosteolytic agent which inhibits bone resorption.

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Cefotetan Disodium
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R788 disodium
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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
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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.

Fostamatinib Disodium
HY-13038 100mg
EUR 863

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

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

Phosphoramidon (Disodium)
HY-N2021A 50mg
EUR 1234

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

Temocillin Disodium
T130-100MG 100 mg
EUR 986

Temocillin Disodium
T130-10MG 10 mg
EUR 269

Quinidine Sulfate dihydrate
2910-1G
EUR 98

Quinidine Sulfate dihydrate
2910-5G
EUR 185

Succinylcholine Chloride Dihydrate
B1595-5.1 10 mM (in 1mL DMSO)
EUR 108
Description: Succinylcholine Chloride Dihydrate is a nicotinic AChR agonist and also acts as a depolarizing neuromuscular blocker.

Succinylcholine Chloride Dihydrate
B1595-50 50 mg
EUR 128
Description: Succinylcholine Chloride Dihydrate is a nicotinic AChR agonist and also acts as a depolarizing neuromuscular blocker.

Quinine HCl Dihydrate
B2123-10 10 mg
EUR 128
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate
B2123-5.1 10 mM (in 1mL DMSO)
EUR 126
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate
B2123-50 50 mg
EUR 268
Description: Quinine HCl Dihydrate

Quinine HCl Dihydrate
B2123-S Evaluation Sample
EUR 81
Description: Quinine HCl Dihydrate

Amiloride HCl dihydrate
B2268-5.1 10 mM (in 1mL DMSO)
EUR 108
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Amiloride HCl dihydrate
B2268-50 50 mg
EUR 128
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Amiloride HCl dihydrate
B2268-S Evaluation Sample
EUR 81
Description: Amiloride HCl dihydrate is a potent epithelial sodium channel blocker.

Pefloxacin Mesylate Dihydrate
B2291-100 100 mg
EUR 96
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 108
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 108
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 224
Description: Pefloxacin mesylate dehydrate is a an antibacterial agent and prevents bacterial DNA replication by inhibiting DNA gyrase (topoisomerse)

Ondansetron hydrochloride dihydrate
B1204-10 10 mg
EUR 108
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 108
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 148
Description: Ondansetron is a serotonin 5-HT3 receptor antagonist used mainly as anantiemetic (to treat nausea and vomiting), often following chemotherapy.

Amodiaquine dihydrochloride dihydrate
B6134-100 100 mg
EUR 128

Amodiaquine dihydrochloride dihydrate
B6134-500 500 mg
EUR 290

Tetraethylammonium fluoride dihydrate
20-abx184422
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Lithium acetate dihydrate
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Calcium Levulinate Dihydrate
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1,3,5-Trihydroxybenzene Dihydrate
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D-(+)-Trehalose dihydrate
abx082139-25g 25 g
EUR 217
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D-(+)-Trehalose dihydrate
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EUR 189
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Quercetin dihydrate(Sophoretin)
E1KS2347 25mg
EUR 393

Calcium chloride dihydrate
B7290-1000000 1000 g
EUR 108
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.

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

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

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

Sodium nitroprusside dihydrate
GT2671-100G 100 g
EUR 64

Sodium nitroprusside dihydrate
GT2671-250G 250 g
EUR 98