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Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.
Lu, Yitong; Zhao, Shaozhi; He, Xiaohui; Yang, Hua; Wang, Xiaolei; Miao, Chen; Liu, Hongwei; Zhang, Xinwen.
Afiliação
  • Lu Y; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Zhao S; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • He X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Yang H; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Wang X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Miao C; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Liu H; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
  • Zhang X; Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China. xianxinwen@163.com.
BMC Med Genomics ; 15(1): 271, 2022 12 25.
Article em En | MEDLINE | ID: mdl-36567323
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Metilenotetra-Hidrofolato Redutase (NADPH2) / Aconselhamento Genético / Heterozigoto / Homocistinúria Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Metilenotetra-Hidrofolato Redutase (NADPH2) / Aconselhamento Genético / Heterozigoto / Homocistinúria Idioma: En Ano de publicação: 2022 Tipo de documento: Article