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

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-p...

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Detalles Bibliográficos
Autores principales: Lu, Yitong, Zhao, Shaozhi, He, Xiaohui, Yang, Hua, Wang, Xiaolei, Miao, Chen, Liu, Hongwei, Zhang, Xinwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790122/
https://www.ncbi.nlm.nih.gov/pubmed/36567323
http://dx.doi.org/10.1186/s12920-022-01408-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790122/
https://www.ncbi.nlm.nih.gov/pubmed/36567323
http://dx.doi.org/10.1186/s12920-022-01408-4

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