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Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation

The human disorders of peroxisome biogenesis (PBDs) are subdivided into 12 complementation groups (CGs). CG8 is one of the more common of these and is associated with varying phenotypes, ranging from the most severe, Zellweger syndrome (ZS), to the milder neonatal adrenoleukodystrophy (NALD) and inf...

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Main Authors: Matsumoto, Naomi, Tamura, Shigehiko, Furuki, Satomi, Miyata, Non, Moser, Ann, Shimozawa, Nobuyuki, Moser, Hugo W., Suzuki, Yasuyuki, Kondo, Naomi, Fujiki, Yukio
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2003
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180364/
https://ncbi.nlm.nih.gov/pubmed/12851857
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