Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese.
Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Seiji
S
Takeuchi
Yuko
Y
Abe
Taku
T
Yamada
Seiji
S
Kawano
Yutaka
Y
Hozumi
Shosuke
S
Ito
Tamio
T
Suzuki
Chikako
C
Nishigori
D044466:Asian People; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype
C102160:HPS1 protein, human; D008565:Membrane Proteins