Article
Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.
BMC medical genomics - 25 Dec 2022
Lu Yitong, Zhao Shaozhi, He Xiaohui, Yang Hua, Wang Xiaolei, Miao Chen, Liu Hongwei, Zhang Xinwen
Abstract excerpt
BACKGROUND: Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this study is to expand the mutation site of the MTHFR gene and provide genetic counseling for this family. METHODS: A couple came to our hospital for pre-pregnancy genetic counseling. We collected the family history and detailed clinical information, then performed...
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