Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels

Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overlapping syndromes, collectively called “peroxisome biogenesis disorders” (PBDs), with clinical features being most severe in ZS and least pronounced in IRD. Inheritance of these disor...

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Asıl Yazarlar: Walter, Claudia, Gootjes, Jeannette, Mooijer, Petra A., Portsteffen, Herma, Klein, Christina, Waterham, Hans R., Barth, Peter G., Epplen, Jörg T., Kunau, Wolf-H., Wanders, Ronald J. A., Dodt, Gabriele
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2001
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Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226046/
https://ncbi.nlm.nih.gov/pubmed/11389485
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