Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

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Article

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

American journal of human genetics - 1 Feb 1992

Spritz R A, Giebel L B, Holmes S A

Abstract excerpt

Piebaldism is an autosomal dominant disorder of melanocyte development and is characterized by congenital white patches of skin and hair from which melanocytes are completely absent. A similar disorder of the mouse, "dominant white spotting" (W), results from mutations of the c-kit proto-oncogene, which encodes the cellular tyrosine kinase receptor for the mast/stem cell growth factor. We have identified c-kit...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Southern
Female
Genes, Dominant
Genetic Linkage
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Piebaldism

Polymerase Chain Reaction

Polymorphism, Genetic

Proto-Oncogene Mas

Proto-Oncogene Proteins

Proto-Oncogene Proteins c-kit

Source

Open in PubMed Open full text

Identifiers

PMID: 1370874
PMCID: PMC1682440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1370874-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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