Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

BACKGROUND: Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms. METHODS: We measured biochemical m...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Donsante, Anthony, Tang, Jingrong, Godwin, Sarah C, Holmes, Courtney S, Goldstein, David S, Bassuk, Alexander, Kaler, Stephen G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597922/
https://ncbi.nlm.nih.gov/pubmed/17496194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050013
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados