title: Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis.
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Ikegami
authors.forename: Keiko
authors.initials: K
authors.lastname: Hiyama
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Haruta
authors.forename: Chinatsu
authors.initials: C
authors.lastname: Oguri
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Nobuoki
authors.initials: N
authors.lastname: Kohno
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D017931:DNA Primers; D018076:DNA, Complementary; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011658:Pulmonary Fibrosis / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D012333:RNA, Messenger / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; C102160:HPS1 protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger