Ontology highlight
ABSTRACT:
SUBMITTER: Ye J
PROVIDER: S-EPMC3108037 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Ye Juan J Zhang Huina H Zhou Yandan Y Wu Han H Wang Changjun C Shi Xin X
Molecular vision 20110525
<h4>Purpose</h4>To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).<h4>Methods</h4>Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 g ...[more]