Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Blindness and PCDH15[original query] |
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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
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- Page last updated:Apr 22, 2024
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