Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism-Reference-Cited by-同舟云学术

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Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

Published:2020-06-18 Issue:1 Volume:46 Page:140-143
ISSN:0271-3683
Container-title:Current Eye Research
language:en
Short-container-title:Current Eye Research

Author:

Chuan Zhang¹²³,Yan Yousheng²,Hao Shengju³,Zhang Qinghua³,Zhou Bingbo³,Feng Xuan³,Wang Xing³,Liu Furong³,Zheng Lei³,Cao Zongfu¹²⁴,Ma Xu¹²⁴

Affiliation:

1. Graduate School of Peking Union Medical College, Beijing, China

2. National Research Institute for Family Planning, Beijing, China

3. Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China

4. National Human Genetic Resources Center, Beijing, China

Funder

Gansu Natural Science Foundation

National Key Research and Development Program of China

Non-profit Central Research Institute Fund of National Research Institute For Family Planing

National Population and Reproductive Health Science Data Center

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

https://www.tandfonline.com/doi/pdf/10.1080/02713683.2020.1781192

Reference16 articles.

1. Delineating the genetic heterogeneity of OCA in Hungarian patients

2. A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

3. Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

4. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

5. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4

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1. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre;Orphanet Journal of Rare Diseases;2024-08-13

2. Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature;BMC Pediatrics;2024-06-10

3. Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism;Molecular Genetics & Genomic Medicine;2023-10-26

4. 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

5. NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism;BMC Genomics;2022-04-29

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