在一名患有肥胖症的摩洛哥女性中鉴定该基因的p.Met215Ile突变。
Identification of p.Met215Ile mutation of the gene in a Moroccan woman with obesity.
作者信息
El Fessikh Meriem, Belghiti Hakim, Elkarhat Zouhair, Guerinech Hassania, Dakka Nadia, El Baghdadi Jamila
机构信息
Genetics Unit Military Hospital Mohammed V Rabat Morocco.
Laboratory of Human Pathologies Biology, and Genomic Center of Human Pathologies Faculty of Sciences Mohammed V University in Rabat Rabat Morocco.
出版信息
Clin Case Rep. 2021 Nov 16;9(11):e05059. doi: 10.1002/ccr3.5059. eCollection 2021 Nov.
Abstract
Screening the gene showed one rare mutation p.Met215Ile in a Moroccan patient with morbid obesity, which leads to a change in the protein structure. The analysis of variants may be useful for future therapeutic approaches.
摘要
对该基因进行筛查时，在一名患有病态肥胖症的摩洛哥患者中发现了一种罕见突变p.Met215Ile，这导致了蛋白质结构的改变。对变异体的分析可能对未来的治疗方法有用。
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