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  3. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Penttilä S
  • Palmio J
  • Suominen T
  • Raheem O
  • Evilä A
  • Tasca G
  • Waddell LB
  • Clarke NF
  • Barboi A
  • Hackman P
  • Udd B

Grupos

Abstract

Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy.

Datos de la publicación

ISSN/ISSNe:
0028-3878, 1526-632X

Neurology  LIPPINCOTT WILLIAMS & WILKINS

Tipo:
Article
Páginas:
897-903
PubMed:
22402862
Factor de Impacto:
3,200 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 83

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