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

Ethylenediamine dihydrochloride

40000027-1 100 g
EUR 23.06

Ethylenediamine dihydrochloride

40000027-2 500 g
EUR 76.87

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

Ethylenediamine

LCS-1961 EACH
EUR 286.8

Ethylenediamine

GK5741-100 100
EUR 21

Ethylenediamine

GK5741-25 25
EUR 15.2

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.

Cy5.5-ethylenediamine

E37F11571 1-mg
EUR 520
Description: Reagents-for-in-vivo-imaging.Lipid-fluorescent-reagent.

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

EDTA Disodium Salt Dihydrate

40500012-1 500 g
EUR 53.99

EDTA Disodium Salt Dihydrate

40500012-2 1 kg
EUR 89.15

EDTA Disodium Salt Dihydrate

40500012-3 2.5 kg
EUR 187.43

EDTA Disodium Salt Dihydrate

40500012-4 5 kg
EUR 319.37

EDTA Disodium Salt Dihydrate

40500012-5 10 kg
EUR 621.34

EDTA, Disodium Salt, Dihydrate

A2503-1KG 1KG
EUR 46.2
Description: Biotechnology

EDTA, Disodium Salt, Dihydrate

A2503-500G 500G
EUR 26.4
Description: Biotechnology

EDTA, Disodium Salt, Dihydrate

A2503-5KG 5KG
EUR 189.2
Description: Biotechnology

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.

Nitroprusside (disodium dihydrate)

HY-A0119 500mg
EUR 129.6

(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

EDTA Disodium Salt Dihydrate 0.057M

40500040-1 500 mL
EUR 15.48

EDTA Disodium Salt Dihydrate 0.057M

40500040-2 1 L
EUR 34.73

EDTA Disodium Salt Dihydrate 0.057M

40500040-3 4 L
EUR 90.31

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.

Tartaric acid (disodium dihydrate)

HY-D0850 500mg
EUR 129.6

Tartaric acid disodium dihydrate

C6836-1000 1g
EUR 60

Tartaric acid disodium dihydrate

C6836-500 500mg
EUR 50

TS biotin-xx ethylenediamine

92012 10MG
EUR 307.2
Description: Minimum order quantity: 1 unit of 10MG

EDTA Disodium Salt Dihydrate 0.1M

40500039-1 500 mL
EUR 20.55

EDTA Disodium Salt Dihydrate 0.1M

40500039-2 1 L
EUR 44.87

EDTA Disodium Salt Dihydrate 0.1M

40500039-3 4 L
EUR 97.31

Sulfo-Cy5.5-ethylenediamine

E37F10571 1-mg
EUR 1290
Description: Reagents-for-in-vivo-imaging.Water-soluble-fluorescent-reagent.

EDTA Disodium Salt Dihydrate 0.05M

40500041-1 500 mL
EUR 14.05

EDTA Disodium Salt Dihydrate 0.05M

40500041-2 1 L
EUR 31.88

EDTA Disodium Salt Dihydrate 0.05M

40500041-3 4 L
EUR 90.31

Ethylenediamine Monohydrate

abx184068-500ml 500 ml
EUR 292.8

Disodium Hydrogen Phosphate Dihydrate

40400072-1 250 g
EUR 41.3

Disodium Hydrogen Phosphate Dihydrate

40400072-2 500 g
EUR 72.45

Biotin ethylenediamine (free base form)

90071 25MG
EUR 158.4
Description: Minimum order quantity: 1 unit of 25MG

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.

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

biotin ethylenediamine iodoacetamide

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

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

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

Bis(ethylenediamine) palladium(II) chloride, 99.95% (metals basis)

GX3036-1 1
EUR 260.7

Adenosine-5'-diphosphate (ADP), Disodium Dihydrate

A2123-1G 1G
EUR 46.2
Description: Ultra Pure

Adenosine-5'-diphosphate (ADP), Disodium Dihydrate

A2123-5G 5G
EUR 129.8
Description: Ultra Pure

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

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

Quercetin dihydrate

A2552-1000 1g
EUR 48
Description: PLA2 and PI 3-kinase inhibitor

Quercetin dihydrate

A2552-5000 5g
EUR 71
Description: PLA2 and PI 3-kinase inhibitor

Alvimopan dihydrate

A3163-500 500mg
EUR 2098
Description: μ-opioid receptor antagonist,peripherally acting

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

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.