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  3. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Lossi AM
  • Villard L
  • Cardoso C
  • Prieto F
  • Fontés M

Abstract

Abstract no disponible

Datos de la publicación

ISSN/ISSNe:
0002-9297, 1537-6605

AMERICAN JOURNAL OF HUMAN GENETICS  CELL PRESS

Tipo:
Letter
Páginas:
558-562
PubMed:
10417298
Factor de Impacto:
4,516 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 55

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Keywords

  • ALPHA-THALASSEMIA; ATR-X; PROTEIN; CHROMOSOME; CARRIERS

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