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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226046/
https://ncbi.nlm.nih.gov/pubmed/11389485
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