BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome-Reference-Cited by-同舟云学术

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BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Published:2020-10 Issue:10 Volume:22 Page:1613-1622
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Pennamen Perrine,Le Linh,Tingaud-Sequeira Angèle,Fiore Mathieu,Bauters Anne,Van Duong Béatrice Nguyen,Coste Valentine,Bordet Jean-Claude,Plaisant Claudio,Diallo Modibo,Michaud Vincent,Trimouille Aurélien,Lacombe Didier,Lasseaux Eulalie,Delevoye Cédric,Picard Fanny Morice,Delobel Bruno,Marks Michael S.,Arveiler Benoit

Funder

Genespoir

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0867-5.pdf

Reference32 articles.

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New Progress in Molecular Genetics Research of Albinism;Journal of Contemporary Medical Practice;2024-08-21

2. Enhanced MC1R-signalling and pH modulation facilitate melanogenesis within late endosomes of BLOC-1-deficient melanocytes;2024-07-08

3. After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report;Molecular Genetics & Genomic Medicine;2024-07

4. Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population;Clinica Chimica Acta;2024-07

5. Whole genome resequencing reveals the genetic basis of albino phenotype in an ornamental fish, Channa asiatica;Aquaculture Reports;2024-06

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