A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

OBJECTIVE: To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. DESIGN: Genotype-phenotype correlation. SETTING: Tertiary care universities. PATIENTS: Four children...

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Detaylı Bibliyografya
Asıl Yazarlar: Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3826985/
https://ncbi.nlm.nih.gov/pubmed/20142534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2009.332
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