Novel mutation causing Hermansky-Pudlak Syndrome Type 2.
Chiang
Pei-Wen
PW
Spector
Elaine
E
Thomas
Martha
M
Frei-Jones
Melissa
M
D033963:Adaptor Protein Complex 3 / Q000235:genetics*; D033966:Adaptor Protein Complex beta Subunits / Q000235:genetics*; D002675:Child, Preschool; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
C439973:AP3B1 protein, human; D033963:Adaptor Protein Complex 3; D033966:Adaptor Protein Complex beta Subunits