NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism

Author:

Okamura Ken1ORCID,Hayashi Masahiro1ORCID,Abe Yuko1,Kono Michihiro2,Nakajima Kimiko3,Aoyama Yumi4,Nishigori Chikako5,Ishimoto Hiroshi6,Ishimatsu Yuji7,Nakajima Mika8,Hozumi Yutaka1,Suzuki Tamio1

Affiliation:

1. Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan

2. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan

3. Department of Dermatology, Kochi Medical School Kochi University Kochi Japan

4. Department of Dermatology Kawasaki Medical School Kurashiki Japan

5. Division of Dermatology, Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan

6. Department of Respiratory Medicine Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan

7. Department of Nursing Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan

8. Department of Pediatrics Hakodate Central General Hospital Hakodate Japan

Funder

Japan Society for the Promotion of Science

Shiseido Group

Ministry of Health

Kao Corporation

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Reference22 articles.

1. Hermansky-Pudlak syndrome type 4 with a novel mutation

2. Effect of pirfenidone on the pulmonary fibrosis of Hermansky–Pudlak syndrome

3. Pathogenesis of pulmonary fibrosis: Platelet‐derived growth factor precedes structural alterations in the Hermansky‐Pudlak syndrome;Harmon K. R.;Journal of Laboratory and Clinical Medicine,1994

4. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

5. Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

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