Article

Novel Compound Heterozygous Mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency

2022-07-19

Abstract excerpt

<h4>Background: </h4> 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 MTHFR gene and provide genetic counseling for this family. <h4>Methods: </h4> A couple came to our hospital for pre-pregnancy genetic counseling. We collected the family history and detailed clinical information, then...

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Literature Corpus work: 65d0cb42-a3f1-52e5-addf-4c8ed0a0a5e0
DOI: 10.21203/rs.3.rs-1813736/v1

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