A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China-Reference-Cited by-同舟云学术

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A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China

Published:2019-08 Issue:33 Volume:98 Page:e16899
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Wu Wenjuan,Lin Keqin,Yang Yanni,Dong ZhaoXing,Zhang Tao,Lei Wen,Yang Weimin,Yang Zhaoqing

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference26 articles.

1. Hermansky-Pudlak syndrome;El-Chemaly;Clin Chest Med,2016

2. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism;Miyamichi;J Hum Genet,2016

3. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients;Wei;Pigment Cell Melanoma Res,2016

4. Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells;Zhang;Am J Physiol Lung Cell Mol Physiol,2011

5. Pulmonary fibrosis in Hermansky-Pudlak syndrome;Vicary;Ann Am Thorac Soc,2016

Cited by 2 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. Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky–Pudlak syndrome type 4 gene;Genes to Cells;2020-11-28

2. Hermansky–Pudlak syndrome: Mutation update;Human Mutation;2020-01-23

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