Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

author
created [InstanceEdit:9033817] May, Bruce, 2017-12-28
dbId 9033860
displayName Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
journal Am. J. Hum. Genet.
pages 612-24
pubMedIdentifier 11781871
schemaClass LiteratureReference
title Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
url http://www.ncbi.nlm.nih.gov/pubmed/11781871
volume 70
year 2002
Cite Us!