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Article

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

Human molecular genetics - 1 Jul 1997

Barbosa M D, Barrat F J, Tchernev V T, Nguyen Q A, Mishra V S, Colman S D, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe R F, Wallace M R, Brandt S J, de Saint Basile G, Kingsmore S F

Abstract excerpt

Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated i...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9215680
DOI: 10.1093/hmg/6.7.1091
PMCID: PMC2871070

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9215680-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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