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Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
J Med Genet. 2005 Sep;42(9):e58. doi: 10.1136/jmg.2005.033324.
J Med Genet. 2005.
PMID: 16141001
Free PMC article.
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, Osumi T, Kondo N, Fujiki Y.
Tamura S, et al.
Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4350-5. doi: 10.1073/pnas.95.8.4350.
Proc Natl Acad Sci U S A. 1998.
PMID: 9539740
Free PMC article.
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Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI.
Maxwell MA, et al.
Hum Mutat. 2002 Nov;20(5):342-51. doi: 10.1002/humu.10128.
Hum Mutat. 2002.
PMID: 12402331
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