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.

Ethylenediamine dihydrochloride
GK6724-500G 500 g
EUR 141.6

Ethylenediamine dihydrochloride
GK6724-100 100
EUR 23.8

Ethylenediamine dihydrochloride
GK6724-250 250
EUR 55.4

Ethylenediamine dihydrochloride
GK6724-500 500
EUR 87.1

N-(1-Naphthyl)-ethylenediamine dihydrochloride
NB0650 10g
EUR 84.01

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-100G 100 g
EUR 294

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-25G 25 g
EUR 132

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-5G 5 g
EUR 64.8

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-100 100
EUR 213.7

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-25 25
EUR 79.1

N-(1-Naphthyl)ethylenediamine dihydrochloride
GK9342-5 5
EUR 23.8

EDTA, Disodium Salt, Dihydrate
CH032 500 g
EUR 195.6

EDTA, Disodium Salt, Dihydrate
CH033 1.0 kg
EUR 234

EDTA, Disodium Salt, Dihydrate
CH034 2.5 kg
EUR 400.8

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

EDTA, disodium salt, dihydrate
EB0185 500g
EUR 84.01

EDTA disodium salt dihydrate
GE3023-1 1
EUR 39.4

EDTA disodium salt dihydrate
GE3023-100 100
EUR 11.3

EDTA disodium salt dihydrate
GE3023-250 250
EUR 15.9

EDTA disodium salt dihydrate
GE3023-5 5
EUR 118.7

EDTA disodium salt dihydrate
GE3023-500 500
EUR 23.8

Ethylenediamine
LCS-1961 EACH
EUR 286.8

Ethylenediamine
GK5741-100 100
EUR 21

Ethylenediamine
GK5741-25 25
EUR 15.2

Nitroprusside (disodium dihydrate)
HY-A0119 500mg
EUR 129.6

5(6)-FAM ethylenediamine
123-100mg 100 mg
EUR 109
Description: 5(6)-FAM ethylenediamine is an excellent building block for developing fluoresceinated bioconjugates.

5-FAM ethylenediamine
124-100mg 100 mg
EUR 222
Description: 5-FAM ethylenediamine is an excellent building block for developing fluoresceinated bioconjugates.

AMCA Ethylenediamine
504-5mg 5 mg
EUR 222
Description: AMCA is one of the brightest blue fluorescent labeling dyes.

Tartaric acid (disodium dihydrate)
HY-D0850 500mg
EUR 129.6

5(6)-TAMRA ethylenediamine
354 25 mg
EUR 222

5(6)-TAMRA ethylenediamine
354-25mg 25 mg
EUR 222
Description: 5(6)-TAMRA ethylenediamine is a building block for developing TAMRA bioconjugates.

(S,S)-Ethylenediamine-N,N''-disuccinic acid
GW0880-100 100
EUR 563.6

(S,S)-Ethylenediamine-N,N''-disuccinic acid
GW0880-25 25
EUR 214.1

5-TAMRA ethylenediamine
358 5 mg
EUR 222

6-TAMRA ethylenediamine
359 5 mg
EUR 222

TS biotin ethylenediamine
92010 10MG
EUR 280.8
Description: Minimum order quantity: 1 unit of 10MG

5-TAMRA ethylenediamine
358-5mg 5 mg
EUR 222
Description: 5-TAMRA ethylenediamine is a building block for developing TAMRA bioconjugates.

6-TAMRA ethylenediamine
359-5mg 5 mg
EUR 222
Description: 6-TAMRA ethylenediamine is a building block for developing TAMRA bioconjugates.

biotin ethylenediamine hcl
90075 25MG
EUR 158.4
Description: Minimum order quantity: 1 unit of 25MG

TS biotin-x ethylenediamine
92011 10MG
EUR 294
Description: Minimum order quantity: 1 unit of 10MG

Biotin ethylenediamine *CAS 1217450-40-2*
3003-10mg 10 mg
EUR 109
Description: Biotin ethylenediamine is widely used to label biomolecules that contain either carboxy, phosphonyl or carbonyl group.

TS biotin-xx ethylenediamine
92012 10MG
EUR 307.2
Description: Minimum order quantity: 1 unit of 10MG

Ethylenediamine Monohydrate
abx184068-500ml 500 ml
EUR 292.8

Biotin ethylenediamine (free base form)
90071 25MG
EUR 158.4
Description: Minimum order quantity: 1 unit of 25MG

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

Phenyl phosphate disodium salt dihydrate
GE1672-10 10
EUR 22.1

Phenyl phosphate disodium salt dihydrate
GE1672-100 100
EUR 118.7

Phenyl phosphate disodium salt dihydrate
GE1672-25 25
EUR 43.5

Phenyl phosphate disodium salt dihydrate
GE1672-50 50
EUR 68.9

Chromotropic Acid Disodium Salt Dihydrate
20-abx186412
  • EUR 393.60
  • EUR 276.00
  • 100 g
  • 25 g

N-(3-Hydroxypropyl)ethylenediamine
20-abx180828
  • EUR 276.00
  • EUR 844.80
  • EUR 427.20
  • 1 g
  • 25 g
  • 5 g

5(6)-Carboxyrhodamine 6G ethylenediamine
344 1 mg
EUR 334

5(6)-Carboxyrhodamine 6G ethylenediamine
344-1mg 1 mg
EUR 334
Description: 5(6)-Carboxyrhodamine 6G ethylenediamine is a building block for developing rhodamine bioconjugates.

biotin ethylenediamine iodoacetamide
90059 25MG
EUR 207.6
Description: Minimum order quantity: 1 unit of 25MG

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

2-Ketoglutaric acid disodium salt dihydrate
GE6119-100 100
EUR 110.7

2-Ketoglutaric acid disodium salt dihydrate
GE6119-25 25
EUR 35.5

EDTA disodium salt dihydrate, 99%, Ph. Eur. grade
GX8832-1 1
EUR 67.2

EDTA disodium salt dihydrate, 99%, Ph. Eur. grade
GX8832-5 5
EUR 237.2

EDTA disodium salt dihydrate, 99%, Ph. Eur. grade
GX8832-500 500
EUR 39.4

EDTA, Disodium Dihydrate Salt Ultra Pure Grade
20-147 500g/Unit
EUR 366

N,N,N',N'-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-100MG 100 mg
EUR 132

N,N,N',N'-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-250MG 250 mg
EUR 217.2

N,N,N',N'-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-50MG 50 mg
EUR 92.4

N,N,N'',N''-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-100 100
EUR 79.1

N,N,N'',N''-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-250 250
EUR 150.4

N,N,N'',N''-Tetrakis(2-pyridylmethyl)ethylenediamine
GK2289-50 50
EUR 46.8

(S,S)-Ethylenediamine-N,N''-disuccinic acid trisodium salt solution
GW0455-100 100
EUR 135.6

Bis(ethylenediamine) palladium(II) chloride, 99.95% (metals basis)
GX3036-1 1
EUR 260.7

Rhodamine 6G ethylenediamine amide bis (trifluoroacetate)
GW3583-10 10
EUR 161.8

Rhodamine 6G ethylenediamine amide bis (trifluoroacetate)
GW3583-50 50
EUR 405.4

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

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-1 1
EUR 170

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-250 250
EUR 55.4

EDTA calcium disodium salt dihydrate, BP, Ph. Eur., USP grade
GE8581-500 500
EUR 95

Biotin ethylenediamine hydrobromide (equivalent to Neurobiotin): (25mg)
90057 25MG
EUR 171.6
Description: Minimum order quantity: 1 unit of 25MG

5-FITC ethylenediamine [Fluorescein thiocarbamylethylenediamine] *CAS 75453-82-6*
126-100mg 100 mg
EUR 334
Description: 5-FITC ethylenediamine is an excellent building block for developing fluoresceinated bioconjugates.

di-Sodium hydrogen phosphate dihydrate
GK8671-100G 100 g
EUR 46.8

di-Sodium hydrogen phosphate dihydrate
GK8671-1KG 1 kg
EUR 70.8

di-Sodium hydrogen phosphate dihydrate
GK8671-250G 250 g
EUR 51.6

di-Sodium hydrogen phosphate dihydrate
GK8671-500G 500 g
EUR 58.8

di-Sodium hydrogen phosphate dihydrate
GK8671-5KG 5 kg
EUR 141.6

di-Sodium hydrogen phosphate dihydrate, Ph. Eur., USP grade
GK8671-1 1
EUR 28.4

di-Sodium hydrogen phosphate dihydrate, Ph. Eur., USP grade
GK8671-100 100
EUR 9.8

di-Sodium hydrogen phosphate dihydrate, Ph. Eur., USP grade
GK8671-250 250
EUR 13.9

di-Sodium hydrogen phosphate dihydrate, Ph. Eur., USP grade
GK8671-5 5
EUR 87.1

di-Sodium hydrogen phosphate dihydrate, Ph. Eur., USP grade
GK8671-500 500
EUR 19

1000 ug/mL 44-Ethylenedianiline in Purge and Trap Methanol
S-7577 1ML
EUR 388.8

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.

Quercetin, Dihydrate
1773-1000 each
EUR 261.6

Quercetin, Dihydrate
1773-250 each
EUR 124.8

Cidofovir dihydrate
C202-10MG 10 mg
EUR 98.4

Cidofovir dihydrate
C202-50MG 50 mg
EUR 262.8

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.

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

Cidofovir (dihydrate)
HY-17438A 10mg
EUR 142.8

Alvimopan (dihydrate)
HY-76657A 50mg
EUR 721.2

Quercetin (dihydrate)
HY-N0146 100mg
EUR 267.6

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

Quercetin Dihydrate
TBZ2533 20mg Ask for price

Phlorizin dihydrate
TBZ2935 20mg Ask for price

Quercetin dihydrate
GP1387-100 100
EUR 79.1

Quercetin dihydrate
GP1387-25 25
EUR 31.7

Quercetin dihydrate
GP1387-250 250
EUR 142.4

Quercetin dihydrate
GP1387-500 500
EUR 237.2

Lisinopril dihydrate
B2132-250 each
EUR 352.8

Lisinopril dihydrate
B2132-50 each
EUR 157.2

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.

Lisinopril (dihydrate)
HY-18206A 500mg
EUR 170.4

Ceftibuten (dihydrate)
HY-B0698A 10mM/1mL
EUR 151.2

Mildronate dihydrate
GW2470-10 10
EUR 83.3

Mildronate dihydrate
GW2470-25 25
EUR 135.6

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.

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

Enalaprilat (dihydrate)
HY-B0231 100mg
EUR 267.6

Aminopterin dihydrate
GK2974-10 10
EUR 30.1

Aminopterin dihydrate
GK2974-100 100
EUR 140.7

Aminopterin dihydrate
GK2974-25 25
EUR 45.1

Aminopterin dihydrate
GK2974-50 50
EUR 76.6

Azithromycin Dihydrate
B1669-25 25 mg
EUR 153.6
Description: Azithromycin Dihydrate is an acid stable orally administered macrolide antimicrobial drug, structurally related to erythromycin.

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.

Azithromycin dihydrate
A024-25MG 25 mg
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

Azithromycin dihydrate
GA2043-1G 1 g
EUR 151.2

Azithromycin dihydrate
GA2043-250MG 250 mg
EUR 84

Vildagliptin dihydrate
HY-14291A 100mg
EUR 198

Azithromycin dihydrate
GA2043-1 1
EUR 95

Azithromycin dihydrate
GA2043-250 250
EUR 39.4