Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 9...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Gu, S M, Orth, U, Veske, A, Enders, H, Klunder, K, Schlosser, M, Engel, W, Schwinger, E, Gal, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051833/
https://ncbi.nlm.nih.gov/pubmed/8929944
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados