A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.
BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All...
Main Authors: | Naihong Yan, Xuan Liao, Su-ping Cai, Changjun Lan, Yun Wang, Xiaomin Zhou, Yan Yin, Wenhan Yu, Xuyang Liu |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3423421?pdf=render |
Similar Items
-
Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
by: Edouard Baulier, et al.
Published: (2018-12-01) -
Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
by: Daiki Masukawa, et al.
Published: (2019-09-01) -
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
by: Damé Maria Cecília, et al.
Published: (2012-07-01) -
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism
by: Hwei Wuen Chan, et al.
Published: (2021-03-01) -
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
by: Yun Wang, et al.
Published: (2012-01-01)