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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
Peces, Ramón; Mena, Rocío; Peces, Carlos; Santos-Simarro, Fernando; Fernández, Luis; Afonso, Sara; Lapunzina, Pablo; Selgas, Rafael; Nevado, Julián.
Afiliação
  • Peces R; Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain.
  • Mena R; La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.
  • Peces C; Basic Research Center in the Rare Diseases Network (CIBERER), Madrid, Spain.
  • Santos-Simarro F; Information Technology Area, SESCAM, Toledo, Spain.
  • Fernández L; La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.
  • Afonso S; Basic Research Center in the Rare Diseases Network (CIBERER), Madrid, Spain.
  • Lapunzina P; La Paz University Hospital, Medical and Molecular Genetics Institute (INGEMM), IdiPAZ, Madrid, Spain.
  • Selgas R; Basic Research Center in the Rare Diseases Network (CIBERER), Madrid, Spain.
  • Nevado J; Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain.
Mol Genet Genomic Med ; 7(4): e00568, 2019 04.
Article em En | MEDLINE | ID: mdl-30784238
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção de Genes / Diabetes Insípido Nefrogênico / Mutação de Sentido Incorreto / Aquaporina 2 Limite: Adult / Female / Humans 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: Deleção de Genes / Diabetes Insípido Nefrogênico / Mutação de Sentido Incorreto / Aquaporina 2 Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article