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Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations.
Richter, John E; Samreen, Ayesha; Vadlamudi, Charitha; Helmi, Haytham; Mohammad, Ahmed N; Wierenga, Klaas; Hines, Stephanie; Atwal, Paldeep S; Caulfield, Thomas R.
Afiliação
  • Richter JE; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Samreen A; Department of Endocrinology, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Vadlamudi C; Department of Pulmonology and Critical Care, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Helmi H; Department of Pulmonology and Critical Care, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Mohammad AN; Department of Internal Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Wierenga K; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Hines S; Department of Neurosurgery, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Atwal PS; Department of Cancer Biology, Mayo Clinic, Jacksonville, FL 32224, USA.
  • Caulfield TR; Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL 32224, USA. Caulfield.Thomas@mayo.edu.
Medicina (Kaunas) ; 55(5)2019 05 15.
Article em En | MEDLINE | ID: mdl-31096651
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Smad3 / Síndrome de Loeys-Dietz Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Smad3 / Síndrome de Loeys-Dietz Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article