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Titolo:
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
Autore:
Vuillaumier-Barrot, S; Le Bizec, C; Durand, G; Seta, N;
Indirizzi:
Hop Bichat Claude Bernard, Biochim A, F-75877 Paris 18, France Hop Bichat Claude Bernard Paris France 18 im A, F-75877 Paris 18, France
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 9, volume: 46, anno: 2001,
pagine: 547 - 548
SICI:
1434-5161(2001)46:9<547:TT(SIT>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL DISORDER; GLYCOSYLATION;
Keywords:
ALG6; alpha 1,3-glucosyltransferase; congenital disorder of glycosylation-Ic polymorphism; CDG; F304S;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
4
Recensione:
Indirizzi per estratti:
Indirizzo: Seta, N Hop Bichat Claude Bernard, Biochim A, 46 Rue Henri Huchard, F-75877 Paris 18, France Hop Bichat Claude Bernard 46 Rue Henri Huchard Paris France 18 ce
Citazione:
S. Vuillaumier-Barrot et al., "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic", J HUM GENET, 46(9), 2001, pp. 547-548

Abstract

A T911C (F304S) substitution in the ALG6 gene involved in congenital disorder of glycosylation type Ic (OMIM 603147) has been described. However, whether the F304S substitution is a common polymorphism or a causal mutation remains unclear. We screened for the T911C substitution in the ALG6 gene in 54 unrelated healthy French individuals. We developed a restriction fragment length polymorphism assay with a mutagenic primer introducing a diagnostic DdeI restriction site. We found 23 heterozygotes (42.6%) and 3 homozygousindividuals (5.5%). This result indicates that T911C is a common polymorphism with an allele frequency of 27% in a French population and not a causalmutation of congenital disorder of glycosylation type Ic.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 19:44:54