Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency

• Main Authors: Yitong Lu (Author), Shaozhi Zhao (Author), Xiaohui He (Author), Hua Yang (Author), Xiaolei Wang (Author), Chen Miao (Author), Hongwei Liu (Author), Xinwen Zhang (Author)
• Formato: Libro
• Publicado: BMC, 2022-12-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract 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 fo...