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Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as by a malfunction of peroxisomes, among which>10 genotypes have been identified. We have isolated a human PEX16 cDNA (HsPEX16) by per...

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Bibliografiset tiedot
Päätekijät: Honsho, M, Tamura, S, Shimozawa, N, Suzuki, Y, Kondo, N, Fujiki, Y
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377633/
https://ncbi.nlm.nih.gov/pubmed/9837814
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