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
| BINACIS
| ID: bin-23068
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 mutations 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.(AU)
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Colección:
06-national
/
AR
Base de datos:
BINACIS
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]
Año:
1995
Tipo del documento:
Article