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Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.
Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Lemos-Marini, Sofia H V de; Rigatto, Sumara Zuanazi Pinto; Belangero, Vera Maria Santoro; de-Mello, Maricilda Palandi.
Affiliation
  • Coeli FB; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, SP, Brasil.
Arq Bras Endocrinol Metabol ; 52(8): 1277-81, 2008 Nov.
Article in En | MEDLINE | ID: mdl-19169481
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Mineralocorticoid Excess Syndrome, Apparent / 11-beta-Hydroxysteroid Dehydrogenase Type 2 Limits: Child, preschool / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Arq Bras Endocrinol Metabol Year: 2008 Document type: Article Affiliation country: Brazil Country of publication: Brazil
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Mineralocorticoid Excess Syndrome, Apparent / 11-beta-Hydroxysteroid Dehydrogenase Type 2 Limits: Child, preschool / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Arq Bras Endocrinol Metabol Year: 2008 Document type: Article Affiliation country: Brazil Country of publication: Brazil