Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, periarticular calcifications, multiple joint contractures, and psychomo...

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Main Authors: Motley, Alison M., Brites, Pedro, Gerez, Lisya, Hogenhout, Eveline, Haasjes, Janet, Benne, Rob, Tabak, Henk F., Wanders, Ronald J. A., Waterham, Hans R.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2002
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC384941/
https://ncbi.nlm.nih.gov/pubmed/11781871
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