Progress in molecular diagnosis of fragile X syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 296-299, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-295490
ABSTRACT
Fragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS). Its product, fragile X mental retardation protein, is closely involved with development of brain and neurons. PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS. In this article, the progress in the molecular diagnosis of FXS is reviewed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico
/
Proteína do X Frágil da Deficiência Intelectual
/
Patologia Molecular
/
Síndrome do Cromossomo X Frágil
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Artigo
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