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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson, Leif; de Paula Michelatto, Débora; Lusa, Ana Letícia Gori; D'Almeida Mgnani Silva, Camila; Östberg, Linus J; Persson, Bengt; Guerra-Júnior, Gil; Valente de Lemos-Marini, Sofia Helena; Baldazzi, Lilia; Menabó, Soara; Balsamo, Antonio; Greggio, Nella Augusta; Palandi de Mello, Maricilda; Barbaro, Michela; Lajic, Svetlana.
Afiliação
  • Karlsson L; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden.
  • de Paula Michelatto D; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP,
  • Lusa ALG; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
  • D'Almeida Mgnani Silva C; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
  • Östberg LJ; Science for Life Laboratory and eSSENCE, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Persson B; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Guerra-Júnior G; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
  • Valente de Lemos-Marini SH; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
  • Baldazzi L; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy.
  • Menabó S; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy.
  • Balsamo A; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy.
  • Greggio NA; Department of Women's and Children's Health of Padua, Pediatric Endocrinology Unit, Italy.
  • Palandi de Mello M; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
  • Barbaro M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Inherited Metabolic Diseases (CMMS L7:05), Karolinska University Hospital, Stockholm, Sweden.
  • Lajic S; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden. Electronic address: Svetlana.Lajic@ki.se.
Clin Biochem ; 73: 50-56, 2019 Nov.
Article em En | MEDLINE | ID: mdl-31344365
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esteroide 21-Hidroxilase / Modelos Moleculares / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Alelos 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: Esteroide 21-Hidroxilase / Modelos Moleculares / Hiperplasia Suprarrenal Congênita / Mutação de Sentido Incorreto / Alelos Idioma: En Ano de publicação: 2019 Tipo de documento: Article