A carregar...

Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

The absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome. All males with a full mutation in the FMR1 gene and an inactive FMR1 gene are mentally retarded while 60% of the females with a full mutation are affected. Here we describe monozygotic twin sisters who both...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Willemsen, R., Olmer, R., Otero, Y. D., Oostra, B.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734662/
https://ncbi.nlm.nih.gov/pubmed/10922388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.8.603
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!