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Article

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Human molecular genetics - 1 Apr 1994

Bassi M T, Bergen A A, Wapenaar M C, Schiaffino M V, van Schooneveld M, Yates J R, Charles S J, Meitinger T, Ballabio A

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Share to Albinism, Ocular
Share to Blotting, Southern
Share to DNA Mutational Analysis
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Sequence Deletion

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Identifiers

PMID: 8069311
DOI: 10.1093/hmg/3.4.647

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Related research

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A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).PMID 8069311Read ↗

Mutational analysis of the OA1 gene in ocular albinism.Semantic proximity Read ↗

Eight previously unidentified mutations found in the OA1 ocular albinism gene.Semantic proximity Read ↗

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.Semantic proximity Read ↗

New mutations identified in the ocular albinism type 1 gene.Semantic proximity Read ↗

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.Semantic proximity Read ↗

OA1 mutations and deletions in X-linked ocular albinism.Semantic proximity Read ↗

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.Semantic proximity Read ↗

Albinism in a patient with mutations at both the OA1 and OCA3 loci.Semantic proximity Read ↗

Ocular albinism type 1: more than meets the eye.Semantic proximity Read ↗

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.Semantic proximity Read ↗

Female patients clinically affected with X-linked recessive ocular albinism (OA1)Semantic proximity Read ↗

Identification of two novel mutations in families with X-linked ocular albinism.Semantic proximity Read ↗

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