학술논문
OA1 (ital) mutations and deletions in X-linked ocular albinism
Document Type
Academic Journal
Author
Schnur, Rhonda E.; Gao, Mei; Wick, Penelope A.; Keller, Margaret; Benke, Paul J.; Edwards, Matthew J.; Grix, Arthur W.; Hockey, Athel; Jung, Jack H.; Kidd, Kenneth K.; Kistenmacher, Mildred; Levin, Alex V.; Lewis, Richard A.; Musarella, Maria A.; Nowakowski, Rod W.; Orlow, Seth J.; Pillers, De-Ann M.; Punnett, Hope H.; Quinn, Graham E.; Tezcan, Kamer; Wagstaff, Joseph; Weleber, Richard G.; Pagon, Roberta S.
Source
American Journal of Human Genetics. April 1998, Vol. 62 Issue 4, p800, 10 p.
Subject
Language
ISSN
0002-9297
Abstract
Results of deletion and mutation screening of the full-length OA1 (ital) gene in 29 unrelated Australian and North American X-linked ocular albinism (OA) probands have been reported. Thirteen intragenic gene deletions were found and eight new missense mutations were identified. In all patients with nonocular phenotypic abnormalities detectable mutations were found. Five of the probands had additional nonocular phenotypic abnormalities. In X-linked ocular albinism (OA1), Nettleship-Falls type, patients low ocular pigmentation and visual acuity, foveal hypoplasia, nystagmus, and photodysphoria are found. Affected males usually have melanin macroglobules.