Heterogeneous Phenotype in a Family With Compound Heterozygous Parkin Gene Mutations
Author(s) -
Hao Deng,
Wei-Dong Le,
Christine Hunter,
William G. Ondo,
Yi Guo,
Wenjie Xie,
Joseph Jankovic
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.2.273
Subject(s) - compound heterozygosity , genetics , mutation , biology , polymerase chain reaction , phenotype , heterozygote advantage , gene mutation , genotype , allele , gene , microbiology and biotechnology
Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD).
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