A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
Shotelersuk
V
V
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.
Dell'Angelica
E C
EC
Hartnell
L
L
Bonifacino
J S
JS
Gahl
W A
WA
D033966:Adaptor Protein Complex beta Subunits; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics*; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
D033966:Adaptor Protein Complex beta Subunits; D008565:Membrane Proteins