A carregar...
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
Primary microcephaly MCPH1 is an extremely rare autosomal recessive disorder associated with congenital microcephaly, mental retardation and a distinctive cellular phenotype of misregulated chromosome condensation. The MCPH1 gene encodes an 835-amino acid protein, microcephalin, which contains 1 N-t...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3398827/ https://ncbi.nlm.nih.gov/pubmed/22855649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000338975 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|