Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :24566826
Publication Date : //

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.


The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the identification of 20 SCA genes, the cause of the disorder in a significant proportion of families with SCA remains unexplained. In 1972, a French-Canadian family segregating a combination of SCA and erythrokeratodermia variabilis (EKV) in an autosomal dominant fashion was described.

Authors : Cadieux-Dion Maxime , Turcotte-Gauthier Maude , Noreau Anne , Martin Caroline , Meloche Caroline , Gravel Micheline , Drouin Christian Allen , Rouleau Guy A , Nguyen Dang Khoa , Cossette Patrick ,

Related products :

Catalog number Product name Quantity
2500 AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIA GENE, BLOOD 1
SCAR3 SCAR3 Gene spinocerebellar ataxia, autosomal recessive 3
SCAR2 SCAR2 Gene spinocerebellar ataxia, autosomal recessive 2
SCAR5 SCAR5 Gene spinocerebellar ataxia, autosomal recessive 5
SCAR7 SCAR7 Gene spinocerebellar ataxia, autosomal recessive 7
SAX1 SAX1 Gene spastic ataxia 1 (autosomal dominant)
SNAX1 SNAX1 Gene sensory ataxia 1 (autosomal dominant)
CSB-EL020723CH Chicken spastic ataxia 1 (autosomal dominant) (SAX1) ELISA kit, Species Chicken, Sample Type serum, plasma 96T
CSB-EL020723HU Human spastic ataxia 1 (autosomal dominant) (SAX1) ELISA kit, Species Human, Sample Type serum, plasma 96T
E5994h Human Spinocerebellar Ataxia 28 ELISA Kit 96T
8299 SPINOCEREBELLAR ATAXIA (SCA_1) GENE, BLOOD 1
SCA18 SCA18 Gene spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
SCASI SCASI Gene spinocerebellar ataxia with saccadic intrusions
28-526 This gene encodes for a Connexin 32 protein. A large Charcot-Marie-Tooth disease family has been identified with a novel mutation in the Cx32 P2 promoter region at position -526bp. Cx32 mutants that a 0.1 mg
SCAX3 SCAX3 Gene spinocerebellar ataxia, X-linked 3
SCAX4 SCAX4 Gene spinocerebellar ataxia, X-linked 4
SCAX2 SCAX2 Gene spinocerebellar ataxia, X-linked 2
SCAX1 SCAX1 Gene spinocerebellar ataxia, X-linked 1
RP1 RP1 Gene retinitis pigmentosa 1 (autosomal dominant)
RP9 RP9 Gene retinitis pigmentosa 9 (autosomal dominant)
DFNA27 DFNA21 Gene deafness, autosomal dominant 21
DFNA46 DFNA43 Gene deafness, autosomal dominant 43
DFNA5 DFNA47 Gene deafness, autosomal dominant 47
E2649h Human Deafness, Autosomal Dominant 5 ELISA Kit 96T
DFNA47 DFNA45 Gene deafness, autosomal dominant 45


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur