Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Japanese journal of ophthalmology - 1 Nov 2010

Ohtsubo Masafumi, Sato Miho, Hikoya Akiko, Hosono Katsuhiro, Minoshima Shinsei, Hotta Yoshihiro

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Albinism, Oculocutaneous
Share to Asian People
Share to Exons
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Infant

Share to Membrane Glycoproteins

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 21348135

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.PMID 21348135Read ↗

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.Semantic proximity Read ↗

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.Semantic proximity Read ↗

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.Semantic proximity Read ↗

[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].Semantic proximity Read ↗

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.Semantic proximity Read ↗

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Semantic proximity Read ↗

Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.Semantic proximity Read ↗

GPR143 mutations in Chinese patients with ocular albinism type 1.Semantic proximity Read ↗

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

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.Semantic proximity Read ↗

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.Semantic proximity Read ↗

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.