Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.
Suzuki
Tamio
T
Ito
Shiro
S
Inagaki
Katsuhiko
K
Suzuki
Noriyuki
N
Tomita
Yasushi
Y
Yoshino
Makoto
M
Hashimoto
Takashi
T
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*
D004274:DNA, Recombinant; C102160:HPS1 protein, human; D008565:Membrane Proteins; D006147:Guanine; D000225:Adenine