Clinical features of affected males with X linked ocular albinism.
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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneScanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCDeletion in the OA1 gene in a family with congenital X linked nystagmusVisual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana.Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Vision in albinism.A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinismAlbinism: modern molecular diagnosisAbnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.Human melanocyte biology, toxicology, and pathology.The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 timesIncidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasiaA novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmusA new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.Carrier detection in X linked ocular albinism using linked DNA polymorphisms.X linked ocular albinism in Japanese patients.Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.Clinical characteristics of high grade foveal hypoplasia.The ophthalmic presentation of Hermansky-Pudlak syndrome 6.Optic disc area and retinal area in amblyopia.Retinal function in X-linked ocular albinism (OA1).Melanins: Skin Pigments and Much More—Types, Structural Models, Biological Functions, and Formation RoutesClinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)
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P2860
Clinical features of affected males with X linked ocular albinism.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 1993
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical features of affected males with X linked ocular albinism.
@en
Clinical features of affected males with X linked ocular albinism.
@nl
type
label
Clinical features of affected males with X linked ocular albinism.
@en
Clinical features of affected males with X linked ocular albinism.
@nl
prefLabel
Clinical features of affected males with X linked ocular albinism.
@en
Clinical features of affected males with X linked ocular albinism.
@nl
P2093
P2860
P356
P1476
Clinical features of affected males with X linked ocular albinism.
@en
P2093
P2860
P304
P356
10.1136/BJO.77.4.222
P407
P577
1993-04-01T00:00:00Z