Doubly bi-allelic variants of and mthfd1 in a chinese patient with hyperhomocysteinemia and failure of folic acid therapy

HIGHLIGHTS

• who: MTHFR et al. from the Universitu00e9 Toulouse III Paul Sabatier, France Horus University, Egypt have published the research work: Doubly bi-allelic variants of and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy, in the Journal: (JOURNAL)
• what: The authors reported a Chinese family with hereditary HHcy. C631*fs*1) detected in this research has not been published, and therefore, it is considered novel. The study provided data for genetic counseling and personalized treatment to this family, which might contribute to a more comprehensive genetic counseling in HHcy patients . . .
  

   

  

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