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Article

Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

The Journal of investigative dermatology - 1 Jul 1993

Spritz R A, Holmes S A, Itin P, Küster W

Abstract excerpt

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. Here we describe two novel KIT mutations associated with human piebaldism. These amino acid...

Topics

Base Sequence
Codon
Heterozygote
Humans
Molecular Sequence Data
Mutation
Piebaldism
Polymerase Chain Reaction
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-kit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7687267
DOI: 10.1111/1523-1747.ep12358440

Genes

KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7687267-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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