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Article

A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism.

The Journal of dermatology - 1 Feb 2013

Yang Bin, Yang Qin, Yan Hongbo, Sun Ting, Wu Ning

Abstract excerpt

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23083126
DOI: 10.1111/1346-8138.12007

Genes

KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism.PMID 23083126Read ↗

A novel mutation of KIT gene results in piebaldism in a Chinese family.Semantic proximity Read ↗

Report of two Japanese patients with piebaldism including a novel mutation in KIT.Semantic proximity Read ↗

New mutations of KIT gene in two Chinese patients with piebaldism.Semantic proximity Read ↗

A novel KIT missense mutation in one Chinese family with piebaldism.Semantic proximity Read ↗

[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].Semantic proximity Read ↗

A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.Semantic proximity Read ↗

KIT-related piebaldism in a Chinese girl.Semantic proximity Read ↗

Human piebaldism: six novel mutations of the proto-oncogene KIT.Semantic proximity Read ↗

Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT.Semantic proximity Read ↗

New KIT mutations in patients with piebaldism.Semantic proximity Read ↗

In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.Semantic proximity Read ↗

Molecular characterization of piebaldism in a Tunisian family.Semantic proximity Read ↗

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