Genetic variants and mutational spectrum of Chinese Hermansky–Pudlak syndrome patients-Reference-Cited by-同舟云学术

Genetic variants and mutational spectrum of Chinese Hermansky–Pudlak syndrome patients

Published:2020-08-17 Issue:1 Volume:34 Page:111-121
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res.

Author:

Liu Teng¹,Yuan Yefeng²³⁴,Bai Dayong⁵,Qi Zhan²³⁴,Yang Lin⁶,Zhang Tianjiao¹,Yang Xiumin¹,Li Wei²³⁴^ORCID,Wei Aihua¹

Affiliation:

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

2. Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University Beijing China

3. Genetics and Birth Defects Control Center National Center for Children's HealthBeijing China

4. MOE Key Laboratory of Major Diseases in Children Capital Medical University Beijing China

5. Department of Ophthalmology National Center for Children's Health Beijing Children’s Hospital Capital Medical University Beijing China

6. Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pcmr.12916

Reference40 articles.

1. Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

2. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype

3. Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils

4. Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature

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

3. Novel Variants of <i>HPS6</i> Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of <i>HPS6</i> Variants;Ophthalmic Research;2023-12-13

4. Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study;Frontiers in Pediatrics;2022-07-19

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