Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene

Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to t...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Karadimas, Charalampos L., Vu, Tuan H., Holve, Stephen A., Chronopoulou, Penelope, Quinzii, Catarina, Johnsen, Stanley D., Kurth, Janice, Eggers, Elizabeth, Palenzuela, Lluis, Tanji, Kurenai, Bonilla, Eduardo, De Vivo, Darryl C., DiMauro, Salvatore, Hirano, Michio
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559552/
https://ncbi.nlm.nih.gov/pubmed/16909392
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados