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Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.
Cebeci, Ayse Nurcan; Zou, Minjing; BinEssa, Huda A; Alzahrani, Ali S; Al-Rijjal, Roua A; Al-Enezi, Anwar F; Al-Mohanna, Futwan A; Cavalier, Etienne; Meyer, Brian F; Shi, Yufei.
Afiliação
  • Cebeci AN; Department of Pediatric Endocrinology, Istanbul Bilim University, Istanbul, Turkey.
  • Zou M; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • BinEssa HA; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Alzahrani AS; Department of Medicine King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Al-Rijjal RA; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Al-Enezi AF; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Al-Mohanna FA; Department of Cell Biology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Cavalier E; Department of Clinical Chemistry, University of Liège, CHU de Liège, Liège, Belgium.
  • Meyer BF; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Shi Y; Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
J Clin Endocrinol Metab ; 105(6)2020 06 01.
Article em En | MEDLINE | ID: mdl-31821448
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfatos / Raquitismo / Proteínas Serina-Treonina Quinases / Raquitismo Hipofosfatêmico Familiar / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfatos / Raquitismo / Proteínas Serina-Treonina Quinases / Raquitismo Hipofosfatêmico Familiar / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2020 Tipo de documento: Article