Titre:
  • The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Auteur:Montermini, L; Andermann, Eva; Labuda, Małgorzata; Richter, Andreas; Pandolfo, Massimo; Cavalcanti, F; Pianese, Luigi; Iodice, L; Farina, G; Monticelli, Antonella; Turano, Mimmo; Filla, A; De Michele, G; Cocozza, Sergio
Informations sur la publication:Human molecular genetics, 6, 8, page (1261-1266)
Statut de publication:Publié, 1997-08
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Alleles
Base Sequence
DNA
Friedreich Ataxia -- genetics
Humans
Iron-Binding Proteins
Molecular Sequence Data
Mutation
Phosphotransferases (Alcohol Group Acceptor) -- genetics
Polymorphism, Genetic
Trinucleotide Repeats
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue:Anglais
Identificateurs:urn:issn:0964-6906
info:pii/dda165
info:pmid/9259271