Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD) and infantile Refsum disease (IRD), are fatal autosomal recessive diseases caused by impaired peroxisome biogenesis, of which 12 genotypes have been reported. ZS patients manifest the...

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Bibliografiset tiedot
Päätekijät: Tamura, S, Matsumoto, N, Imamura, A, Shimozawa, N, Suzuki, Y, Kondo, N, Fujiki, Y
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2001
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1221968/
https://ncbi.nlm.nih.gov/pubmed/11439091
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