X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
about
OA1 mutations and deletions in X-linked ocular albinismAn Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneDeletion in the OA1 gene in a family with congenital X linked nystagmusGPR143 mutations in Chinese patients with ocular albinism type 1.Vision in albinism.A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismScreening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypesDeep intronic GPR143 mutation in a Japanese family with ocular albinismNovel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.Clinical features of affected males with X linked ocular albinism.X linked ocular albinism in Japanese patients.The recognition and management of albinism.X-linked ocular albinism. Characteristic pattern of affection in female carriers.Variable expression of vision in sibs with albinism.Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?Abnormal central visual pathways in the brain of an albino green monkey (Cercopithecus aethiops).Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)
P2860
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P2860
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
description
1978 nî lūn-bûn
@nan
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
1978年论文
@zh
1978年论文
@zh-cn
name
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
@en
type
label
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
@en
prefLabel
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
@en
P2093
P1433
P1476
X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
@en
P2093
F E O'Donnell
G W Hambrick
J A Fleischman
P304
P356
10.1001/ARCHOPHT.1978.03910060023005
P407
P577
1978-07-01T00:00:00Z