A carregar...

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Neurofibromatosis type 1 (NF1) is caused by mutations in a tumour suppressor gene located on chromosome 17 (17q11.2). Disease causing mutations are dispersed throughout the gene, which spans 350 kilobases and includes 59 exons. A common consequence of NF1 mutations is introduction of a premature sto...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Park, V M, Pivnick, E K
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051455/
https://ncbi.nlm.nih.gov/pubmed/9783703
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!