Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. [electronic resource]
Producer: 19961216Description: 307-11 p. digitalISSN:- 1061-4036
- 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
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Publication Type: Journal Article
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