Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.
Genet Couns
; 8(3): 189-94, 1997.
Article
de En
| MEDLINE
| ID: mdl-9327260
ABSTRACT
We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Ataxie de Friedreich
/
Répétitions de trinucléotides
Limites:
Adult
/
Female
/
Humans
/
Male
Pays/Région comme sujet:
Europa
Langue:
En
Journal:
Genet Couns
Sujet du journal:
ETICA
/
GENETICA MEDICA
Année:
1997
Type de document:
Article
Pays d'affiliation:
France
