Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

Nagle, D L

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