Article
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.
Nature genetics - 1 Apr 1992
Gärtner J, Moser H, Valle D
Abstract excerpt
The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we cloned and sequenced cDNAs for human PMP70 and mapped the gene to chromosome 1. Amongst 32 probands with ZS or related...
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