Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and Lyst[original query] |
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Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 May 135 (5): 1310-8.e1. Cetica Valentina, Hackmann Yvonne, Grieve Samantha, Sieni Elena, Ciambotti Benedetta, Coniglio Maria Luisa, Pende Daniela, Gilmour Kimberly, Romagnoli Paolo, Griffiths Gillian M, Aricò Mauriz |
[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 4 35 (2): 188-192. Zhao Jiangang, Wang Zhi, Zhang Liyu, Sun Hongli, Yang Yi |
Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC genomics 2021 Jun 22 (1): 477. van der Heide Carly, Goar Wes, Meyer Kacie J, Alward Wallace L M, Boese Erin A, Sears Nathan C, Roos Ben R, Kwon Young H, DeLuca Adam P, Siggs Owen M, Gonzaga-Jauregui Claudia, Sheffield Val C, Wang Kai, Stone Edwin M, Mullins Robert F, Anderson Michael G, Fan Bao Jian, Ritch Robert, Craig Jamie E, Wiggs Janey L, Scheetz Todd E, Fingert John |
[Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 11 39 (11): 1257-1261. Wang Conghui, Li Qianqian, Zhao Xuechao, Zhao Ganye, Kong Xiangdo |
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