Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
about
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismA novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmusA new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
P2860
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Novel GPR143 mutations and cli ...... with X-linked ocular albinism.
@en
type
label
Novel GPR143 mutations and cli ...... with X-linked ocular albinism.
@en
prefLabel
Novel GPR143 mutations and cli ...... with X-linked ocular albinism.
@en
P2093
P2860
P1433
P1476
Novel GPR143 mutations and cli ...... with X-linked ocular albinism
@en
P2093
Qingjiong Zhang
Shaohua Fang
Shiqiang Li
Xiangming Guo
Xiaoyun Jia
Xueshan Xiao
P2860
P304
P577
2008-10-30T00:00:00Z