Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis-Reference-Cited by-同舟云学术

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis

Published:2019-05-29 Issue:5 Volume:32 Page:672-686
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res

Author:

Zhong Zilin¹²³,Gu Li¹,Zheng Xiujie¹²,Ma Nengjun¹²,Wu Zehua¹²,Duan Juan⁴,Zhang Jun³,Chen Jianjun¹²³

Affiliation:

1. Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China

2. Department of Medical Genetics Tongji University School of Medicine Shanghai China

3. Department of Regenerative Medicine Tongji University School of Medicine Shanghai China

4. Department of Auxiliary Reproductive Jiujiang Maternal and Child Health Hospital Jiujiang 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.12790

Reference32 articles.

1. Skin Pigmentation Genetics for the Clinic

2. Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

3. Mutation in and lack of expression of tyrosinase‐related protein‐1 (TRP‐1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3";Boissy R. E.;American Journal of Human Genetics,1996

4. Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity

5. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

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