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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Kloth, Katja; Bierhals, Tatjana; Johannsen, Jessika; Harms, Frederike L; Juusola, Jane; Johnson, Mark C; Grange, Dorothy K; Kutsche, Kerstin.
Afiliação
  • Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
  • Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
  • Juusola J; GeneDx, Gaithersburg, MD, USA.
  • Johnson MC; Division of Pediatric Cardiology, Department of Pediatrics, Washington University School of Medicine/St. Louis Children's Hospital, St. Louis, MO, USA.
  • Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine/St. Louis Children's Hospital, St. Louis, MO, USA.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.
Hum Genet ; 138(6): 625-634, 2019 Jun.
Article em En | MEDLINE | ID: mdl-30963242
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cardiovasculares / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Proteína Smad6 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 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: Doenças Cardiovasculares / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Proteína Smad6 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article