Identification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5

J Dermatol. 2020 Nov;47(11):e392-e393. doi: 10.1111/1346-8138.15560. Epub 2020 Sep 2.

Authors

Toru Saito¹, Ken Okamura¹, Yoko Funasaka², Yuko Abe¹, Tamio Suzuki¹

Affiliations

¹ Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
² Department of Dermatology, Nippon Medical School, Tokyo, Japan.

PMID: 32881069
DOI: 10.1111/1346-8138.15560

No abstract available

Publication types

Letter

MeSH terms

Hermanski-Pudlak Syndrome* / genetics
Humans
Japan
Mutation