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Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Driver, Sean G W; Jackson, Meremaihi R; Richter, Konrad; Tomlinson, Paul; Brockway, Ben; Halliday, Benjamin J; Markie, David M; Robertson, Stephen P; Wade, Emma M.
Afiliação
  • Driver SGW; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Jackson MR; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Richter K; Department of Surgery, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Tomlinson P; Department of Paediatrics, Kew Hospital, Invercargill, New Zealand.
  • Brockway B; Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand. stephen.robertson@otago.ac.nz.
  • Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.
Eur J Hum Genet ; 28(4): 445-452, 2020 04.
Article em En | MEDLINE | ID: mdl-31792352
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas da Matriz Extracelular / Doenças do Tecido Conjuntivo / Mutação com Perda de Função Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Nova Zelândia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas da Matriz Extracelular / Doenças do Tecido Conjuntivo / Mutação com Perda de Função Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Nova Zelândia