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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
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- 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 24/01/21 alle ore 00:11:34