Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Linkage analysis and homozygosity testing of two families with MLASA localized the candidate region to 1.2 Mb on 12q24.33. Sequence a...

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Detaylı Bibliyografya
Asıl Yazarlar: Bykhovskaya, Yelena, Casas, Kari, Mengesha, Emebet, Inbal, Aida, Fischel-Ghodsian, Nathan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2004
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182096/
https://ncbi.nlm.nih.gov/pubmed/15108122
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