Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2
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H. Kanegane | T. Kanekura | Tamio Suzuki | Kenji Watanabe | T. Nishikawa | Y. Kawano | K. Okamura | Seiji Sameshima | I. Yamazaki | I. Masamoto | K. Tanita | A. Ibusuki | Mizuki Moriyama