title: Hermansky-Pudlak syndrome type 4 with a novel mutation.
authors.affiliation: Department of Dermatology, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Araki
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ishii
authors.forename: Yuko
authors.initials: Y
authors.lastname: Abe
authors.forename: Junko
authors.initials: J
authors.lastname: Yoshizawa
authors.forename: Fumiki
authors.initials: F
authors.lastname: Okamoto
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Hozumi
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C451752:HPS4 protein, human; D011506:Proteins