NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients-Reference-Cited by-同舟云学术

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients

Published:2016-10-19 Issue:6 Volume:29 Page:702-706
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res.

Author:

Wei Aihua¹,Yuan Yefeng²,Bai Dayong³,Ma Jing⁴,Hao Zhenhua⁴,Zhang Yingzi¹,Yu Jiaying²,Zhou Zhiyong²,Yang Lin²,Yang Xiumin¹,Li Li³,Li Wei⁴⁵

Affiliation:

1. Department of Dermatology; Beijing Tongren Hospital; Capital Medical University; Beijing China

2. State Key Laboratory of Molecular Developmental Biology; Institute of Genetics & Developmental Biology; Chinese Academy of Sciences; Beijing China

3. Department of Ophthalmology; Beijing Childrens Hospital; Capital Medical University; Beijing China

4. Center for Medical Genetics, Beijing Childrens Hospital; Capital Medical University, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Beijing China

5. Center of Alzheimer's Disease; Beijing Institute for Brain Disorders; Beijing China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Beijing Municipality

Ministry of Science and Technology of the People's Republic of China

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pcmr.12534/fullpdf

Reference22 articles.

1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

2. The color loci of mice - a genetic century;Bennett;Pigment Cell Res.,2003

3. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent;Carmona-Rivera;J. Invest. Dermatol.,2011

4. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome;Cordova;Pediatr. Blood Cancer,2005

5. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency;Huizing;Am. J. Hum. Genet.,2001

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