Open AccessPaternal Uniparental Heterodisomy With Partial Isodisomy of Chromosome 1 in a Patient With Retinitis Pigmentosa Without Hearing Loss and a Missense Mutation in the Usher Syndrome Type II Gene USH2A
Author(s) -
Carlo Rivolta,
Eliot L. Berson,
Thaddeus P. Dryja
Publication year - 2002
Publication title -
archives of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1538-3601
pISSN - 0003-9950
DOI - 10.1001/archopht.120.11.1566
Subject(s) - genetics , biology , nondisjunction , uniparental disomy , retinitis pigmentosa , allele , missense mutation , mutation , chromosome , gene , aneuploidy , karyotype
To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP).