TY  - GEN
AU  - Nagle,D L
AU  - Karim,M A
AU  - Woolf,E A
AU  - Holmgren,L
AU  - Bork,P
AU  - Misumi,D J
AU  - McGrail,S H
AU  - Dussault,B J
AU  - Perou,C M
AU  - Boissy,R E
AU  - Duyk,G M
AU  - Spritz,R A
AU  - Moore,K J
TI  - Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
SN  - 1061-4036
PY  - 1996///1216
KW  - Adult
KW  - Alternative Splicing
KW  - Amino Acid Sequence
KW  - Animals
KW  - Chediak-Higashi Syndrome
KW  - genetics
KW  - Cloning, Molecular
KW  - DNA Mutational Analysis
KW  - Endosomal Sorting Complexes Required for Transport
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Mice
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Open Reading Frames
KW  - Protein Conformation
KW  - Protein Serine-Threonine Kinases
KW  - Proteins
KW  - chemistry
KW  - Sequence Homology, Amino Acid
KW  - Vacuolar Sorting Protein VPS15
KW  - Vesicular Transport Proteins
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ng1196-307
ER  -