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Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Zhang, Chuan; Yan, Yousheng; Zhou, Bingbo; Wang, Yupei; Tian, Xinyuan; Hao, Shengju; Ma, Panpan; Zheng, Lei; Zhang, Qinghua; Hui, Ling; Wang, Yan; Cao, Zongfu; Ma, Xu.
Afiliação
  • Zhang C; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Yan Y; National Research Institute for Health and Family Planning, National Human Genetic Resources Center, Beijing, China.
  • Zhou B; Graduate School of Peking, Union Medical College, Beijing, China.
  • Wang Y; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University; Beijing Maternal and Child Health Care Hospital, Beijing, China.
  • Tian X; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Hao S; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Ma P; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Zheng L; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Zhang Q; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Hui L; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Wang Y; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Cao Z; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Ma X; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
Orphanet J Rare Dis ; 18(1): 128, 2023 05 26.
Article em En | MEDLINE | ID: mdl-37237386
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias Idioma: En Ano de publicação: 2023 Tipo de documento: Article