Identification of TYR mutations in patients with oculocutaneous albinism-Reference-Cited by-同舟云学术

Identification of TYR mutations in patients with oculocutaneous albinism

Published:2018-04-13 Issue: Volume: Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Report

Author:

Sun Wan¹,Shen Yanjie¹,Shan Shan²,Han Liyun¹,Li Yang¹,Zhou Zheng²,Zhong Zilin¹,Chen Jianjun¹

Affiliation:

1. Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200092, P.R. China

2. National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

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1. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families;BMC Ophthalmology;2024-08-14

2. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations;Experimental Eye Research;2024-02

3. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1;Pigment Cell & Melanoma Research;2023-07-05

4. Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations;BMC Medical Genomics;2022-01-03

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