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Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
Shen, Yuqi; Shu, Shi; Ren, Yaqiong; Xia, Weibo; Chen, Jianhua; Dong, Liling; Ge, Haijun; Fan, Shiqi; Shi, Lei; Peng, Bin; Zhang, Xue.
Afiliação
  • Shen Y; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Shu S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Ren Y; Department of Neurology, Peking Union Medical College Hospital (PUMCH), CAMS&PUMC, Beijing, China.
  • Xia W; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Chen J; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, PUMCH, CAMS&PUMC, Beijing, China.
  • Dong L; Department of Neurology, Peking Union Medical College Hospital (PUMCH), CAMS&PUMC, Beijing, China.
  • Ge H; Department of Neurology, Peking Union Medical College Hospital (PUMCH), CAMS&PUMC, Beijing, China.
  • Fan S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Shi L; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Peng B; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS&PUMC), Beijing, China.
  • Zhang X; National Health Commission (NHC) and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin, China.
Front Genet ; 12: 643452, 2021.
Article em En | MEDLINE | ID: mdl-34025715
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article