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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
Yi, Fan; Poskanzer, Sheri A; Myers, Candace T; Thies, Jenny; Collins, Christopher J; Dayuha, Remwilyn; Duong, Phi; Houwen, Roderick; Hahn, Si Houn.
Afiliação
  • Yi F; Seattle Children's Research Institute Seattle Washington USA.
  • Poskanzer SA; Department of Pediatrics University of Washington, School of Medicine Seattle Washington USA.
  • Myers CT; Department of Laboratories Seattle Children's Hospital Seattle Washington USA.
  • Thies J; Biochemical Genetics Seattle Children's Hospital Seattle Washington USA.
  • Collins CJ; Seattle Children's Research Institute Seattle Washington USA.
  • Dayuha R; Seattle Children's Research Institute Seattle Washington USA.
  • Duong P; Seattle Children's Research Institute Seattle Washington USA.
  • Houwen R; Wilhelmina Children's Hospital, Utrecht University Utrecht Netherlands.
  • Hahn SH; Seattle Children's Research Institute Seattle Washington USA.
JIMD Rep ; 54(1): 32-36, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32685348
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2020 Tipo de documento: Article