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A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman, Steven A; Tenenbaum-Rakover, Yardena; Jap, Tjin Shing; Yi-Chi, Wu; De-Ming, Yang; Ding, Changlin; Kussiny, Najat; Levine, Michael A.
Affiliation
  • Lietman SA; Departments of Orthopaedic Surgery, Cleveland Clinic Lerner Research Institute and Foundation, Cleveland, Ohio 44195, USA. lietmas@ccf.org
J Clin Endocrinol Metab ; 94(11): 4372-9, 2009 Nov.
Article in En | MEDLINE | ID: mdl-19789209
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Calcium-Sensing / Hypercalciuria / Genes, Recessive / Hypercalcemia / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2009 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Calcium-Sensing / Hypercalciuria / Genes, Recessive / Hypercalcemia / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2009 Document type: Article Affiliation country: United States Country of publication: United States