Identification of two novel mutations in a Japanese patient with Hermansky–Pudlak syndrome type 5
Author:
Affiliation:
1. Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan
2. Department of Dermatology Nippon Medical School Tokyo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15560
Reference5 articles.
1. BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
2. BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery
3. NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism
4. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
5. Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis
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1. Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan;KEIO J MED;2023
2. Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan;The Keio Journal of Medicine;2023
3. Current landscape of Oculocutaneous Albinism in Japan;Pigment Cell & Melanoma Research;2020-10-07
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