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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2006
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559552/
https://ncbi.nlm.nih.gov/pubmed/16909392
Tagiau: Ychwanegu Tag
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