Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. [electronic resource]
- Nature genetics Nov 1996
- 307-11 p. digital
Publication Type: Journal Article
1061-4036
10.1038/ng1196-307 doi
Adult Alternative Splicing Amino Acid Sequence Animals Chediak-Higashi Syndrome--genetics Cloning, Molecular DNA Mutational Analysis Endosomal Sorting Complexes Required for Transport Female Homozygote Humans Infant Intracellular Signaling Peptides and Proteins Male Mice Models, Molecular Molecular Sequence Data Open Reading Frames Protein Conformation Protein Serine-Threonine Kinases--genetics Proteins--chemistry Sequence Homology, Amino Acid Vacuolar Sorting Protein VPS15 Vesicular Transport Proteins