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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Counseling and TYR[original query]
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
Molecular vision 2005 1 10 1005-10.
Sundaresan Periasamy, Sil Asim Kumar, Philp Alisdair R, Randolph Mary A, Natchiar Govindappa, Namperumalsamy Perumalsa
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
The Journal of investigative dermatology 2010 Mar 130 (3): 716-24.
Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Journal of dermatological science 2011 May 62 (2): 124-7.
Wei Aihua, Yang Xiumin, Lian Shi, Li W
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.
Iranian journal of public health 2012 11 39 (1): 100-4.
Pour-Jafari H, Zamanian A, Pour-Jafari
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Gene 2014 Jan 533 (1): 398-402.
Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Chinese medical journal 2013 Jan 126 (2): 226-30.
Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li W
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Genetic testing and molecular biomarkers 2018 2 22 (4): 252-258.
Qiu Biyuan, Ma Tao, Peng Chunyan, Zheng Xiaoqin, Yang Jiy
Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.
Current medical science 2018 10 38 (5): 932-936.
Wang Yan, Zhou Yi-Fan, Shen Na, Zhu Yao-Wu, Tan Kun, Wang Xio
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
BMC genomics 2022 4 23 (1): 332.
Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 1 39 (2): 143-147.
Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiu
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