title: Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shiro
authors.initials: S
authors.lastname: Ito
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Inagaki
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D000225:Adenine; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D004274:DNA, Recombinant; D006147:Guanine; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D004274:DNA, Recombinant; C102160:HPS1 protein, human; D008565:Membrane Proteins; D006147:Guanine; D000225:Adenine