De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of fibroblast growth-factor receptor 2 (FGFR2), is characterized by symmetrical bony syndactyly of the hands and feet. We have analyzed 260 unrelated patients, all but 2 of whom have missense mutations in exon 7, whic...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, Johnson, D, Wall, S A, Jiang, W, Theda, C, Jabs, E W, Wilkie, A O
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377754/
https://ncbi.nlm.nih.gov/pubmed/9973282
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados