Ultimos avances en el síndrome de fragilidad del cromosoma X / Last advances in fragile X chromosome syndrome
Medicina (B.Aires)
; 55(5/1): 457-66, 1995. graf
Article
en Es
| LILACS
| ID: lil-161623
Biblioteca responsable:
BR1.1
ABSTRACT
The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutation's discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and risk of expansion, has enormously increased. This work pretends to review the recent advances in this syndrome in all its aspects.
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Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Síndrome del Cromosoma X Frágil
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
Es
Revista:
Medicina (B.Aires)
Asunto de la revista:
MEDICINA
Año:
1995
Tipo del documento:
Article
Pais de publicación:
Argentina