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SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.
Graham, Rondell P; Dina, Michelle A; Howe, Sarah C; Butz, Malinda L; Willkomm, Kurt S; Murray, David L; Snyder, Melissa R; Rumilla, Kandelaria M; Halling, Kevin C; Highsmith, W Edward.
Afiliação
  • Graham RP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Dina MA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Howe SC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Butz ML; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Willkomm KS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Murray DL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Snyder MR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Rumilla KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
  • Halling KC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Highsmith WE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota. Electronic address: highsmith.w@mayo.edu.
J Mol Diagn ; 17(6): 689-94, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26321041
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2015 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa 1-Antitripsina / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2015 Tipo de documento: Article País de publicação: Estados Unidos