Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis.
Ikegami
Yasuhiko
Y
Hiyama
Keiko
K
Haruta
Yoshinori
Y
Oguri
Chinatsu
C
Yamasaki
Masahiro
M
Kohno
Nobuoki
N
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*
D017931:DNA Primers; D018076:DNA, Complementary; C102160:HPS1 protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger