Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients-Reference-Cited by-同舟云学术

Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients

Published:2021-11 Issue: Volume: Page:
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Wei Aihua^ORCID,Zhang Tianjiao^ORCID,Yuan Yefeng^ORCID,Qi Zhan^ORCID,Bai Dayong^ORCID,Zhang Yingzi^ORCID,Zhang Yunlan,Liu Teng^ORCID,Huang Qiaorong^ORCID,Yang Xiumin^ORCID,Li Wei^ORCID

Funder

National Natural Science Foundation of China

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

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference24 articles.

1. Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse;Fernández;Pigment Cell Melanoma Res,2021

2. OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean;Inagaki;Pigment Cell Res,2005

3. Molecular characterization of a series of 990 index patients with albinism;Lasseaux;Pigment Cell Melanoma Res,2018

4. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients;Liu;Pigment Cell Melanoma Res,2021

5. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells;Ma;J Genet Genomics,2016

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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. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family;Hereditas;2024-02-06

4. The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism;BMC Medicine;2024-01-29

5. Transcriptome and Metabolome Provide Insight into the Formation Mechanism of Skin Pigmentation Diversity in Chinese Soft-Shelled Turtle (Pelodiscus Sinensis);2024