scholarly journals Mutation analysis of a Chinese family with oculocutaneous albinism

Oncotarget ◽  
2016 ◽  
Vol 7 (51) ◽  
pp. 84981-84988 ◽  
Author(s):  
Xiong Wang ◽  
Yaowu Zhu ◽  
Na Shen ◽  
Jing Peng ◽  
Chunyu Wang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Family

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

2020 ◽  
pp. 1-4
Author(s):  
Zhang Chuan ◽  
Yousheng Yan ◽  
Shengju Hao ◽  
Qinghua Zhang ◽  
Bingbo Zhou ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Oculocutaneous Albinism

scholarly journals Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

2017 ◽  
Vol 15 (3) ◽  
pp. 1426-1430 ◽  
Author(s):  
Qian Lu ◽  
Lamei Yuan ◽  
Hongbo Xu ◽  
Xiangjun Huang ◽  
Zhijian Yang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Oculocutaneous Albinism ◽  
Chinese Family ◽  
Tyrosinase Gene

Clinical presentation and mutation analysis of VHL disease in a large Chinese family

2015 ◽  
Vol 125 (2) ◽  
pp. 369-375 ◽  
Author(s):  
Qing Zhang ◽  
De-Ling Li ◽  
Peng Kang ◽  
Nan Ji ◽  
Jun Yang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Clinical Presentation ◽  
Chinese Family ◽  
Vhl Disease

scholarly journals Mutational analysis of a Chinese family with oculocutaneous albinism type 2

Oncotarget ◽  
2017 ◽  
Vol 8 (41) ◽  
pp. 70345-70355
Author(s):  
Xiong Wang ◽  
Yaowu Zhu ◽  
Na Shen ◽  
Jing Peng ◽  
Chunyu Wang ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Oculocutaneous Albinism ◽  
Chinese Family

Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1

2011 ◽  
Vol 33 (2) ◽  
pp. 147-152 ◽  
Author(s):  
Cong-Min LI ◽  
Feng-Yu WANG ◽  
Wei-Wei SUN ◽  
Shu-Li HAN ◽  
Ming-Xiu CHANG ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Chinese Family ◽  
Pathogenic Gene

scholarly journals Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

2016 ◽  
Vol 15 (1) ◽  
pp. 235-239 ◽  
Author(s):  
Yong Chen ◽  
Wanqin Xie ◽  
Feng Hu ◽  
Jia Chen ◽  
Hexin Zheng ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Mutation Analysis ◽  
Chinese Family ◽  
Engelmann Disease

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

2012 ◽  
Vol 28 (3) ◽  
pp. 384-388 ◽  
Author(s):  
Xingzhi Chang ◽  
Yiwen Jin ◽  
Haijuan Zhao ◽  
Qionghui Huang ◽  
Jingmin Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ryanodine Receptor ◽  
Clinical Features ◽  
Mutation Analysis ◽  
Central Core ◽  
Central Core Disease ◽  
Receptor Type ◽  
Chinese Family ◽  
Gene Mutation Analysis

scholarly journals Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome

Medicine ◽  
2021 ◽  
Vol 100 (10) ◽  
pp. e24991
Author(s):  
Huijun Shi ◽  
Jie Yang ◽  
Qingmin Guo ◽  
Minglian Zhang
Keyword(s):  
Mutation Analysis ◽  
Clinical Assessment ◽  
Chinese Family ◽  
Crouzon Syndrome
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