Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

T Nishikawa, K Okamura, M Moriyama… - The Journal of …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …
被引用次数：12 相关文章
[PDF] researchgate.net

[PDF][PDF] Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

T NISHIKAWA, K OKAMURA, M MORIYAMA… - Journal of …, 2020 - researchgate.net
Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

T Nishikawa, K Okamura… - The Journal of …, 2020 - pubmed.ncbi.nlm.nih.gov
Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …

[引用][C] Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

T Nishikawa, K Okamura, M Moriyama… - The Journal of …, 2019 - cir.nii.ac.jp
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak
syndrome type 2 | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ] 詳細へ …

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.

T Nishikawa, K Okamura, M Moriyama… - The Journal of …, 2019 - europepmc.org
Hermansky-Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive
inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding …