Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
Westbroek
Wendy
W
Adams
David
D
Huizing
Marjan
M
Koshoffer
Amy
A
Dorward
Heidi
H
Tinloy
Bradford
B
Parkes
Jennifer
J
Helip-Wooley
Amanda
A
Kleta
Robert
R
Tsilou
Ekaterina
E
Duvernay
Patrice
P
Digre
Kathleen B
KB
Creel
Donnell J
DJ
White
James G
JG
Boissy
Raymond E
RE
Gahl
William A
WA
D000328:Adult; D017668:Age of Onset; D001792:Blood Platelets / Q000473:pathology; D002609:Chediak-Higashi Syndrome / Q000235:genetics* / Q000473:pathology*; D005347:Fibroblasts / Q000473:pathology; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009504:Neutrophils / Q000473:pathology; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics
C102161:LYST protein, human; D033921:Vesicular Transport Proteins