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

Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF
Hum Mol Genet. 1997 6 (7): 1091-8

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

MeSH Terms (18)

Alternative Splicing Amino Acid Sequence Animals Blotting, Northern Chediak-Higashi Syndrome DNA, Complementary DNA Mutational Analysis Humans Intracellular Signaling Peptides and Proteins Isomerism Mice Molecular Sequence Data Mutation Proteins RNA, Messenger Sequence Homology, Amino Acid Tissue Distribution Vesicular Transport Proteins

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