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A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.
Babiker, Amir M I; Al Gadi, Iman; Al-Jurayyan, Nasir A M; Al Nemri, Abdulrahman M H; Al Haboob, Ali Abdu N; Al Boukai, Ahmed Amer; Al Zahrani, Ali; Habib, Hanan Ahmed.
Affiliation
  • Babiker AM; Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia. babikeramir@hotmail.com.
BMC Res Notes ; 7: 783, 2014 Nov 05.
Article in En | MEDLINE | ID: mdl-25371233
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Familial Hypophosphatemic Rickets / 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Asia Language: En Journal: BMC Res Notes Year: 2014 Document type: Article Affiliation country: Saudi Arabia Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Familial Hypophosphatemic Rickets / 25-Hydroxyvitamin D3 1-alpha-Hydroxylase Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Asia Language: En Journal: BMC Res Notes Year: 2014 Document type: Article Affiliation country: Saudi Arabia Country of publication: United kingdom