R01 HD037529/HD/NICHD NIH HHS/United States[Grant Number] - Search Results

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Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 Free PMC article.

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Garone C, Tadesse S, Hirano M. Garone C, et al. Brain. 2011 Nov;134(Pt 11):3326-32. doi: 10.1093/brain/awr245. Epub 2011 Sep 20. Brain. 2011. PMID: 21933806 Free PMC article.

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