Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene [3]

Clinical Endocrinology

Volumn 61, Issue 6, 2004, Pages 780-782

  Miyashiro, Kozue ^a   Kasamatsu, Teresa Sayoko ^a   Steinmetz, Leandra ^b   Cabral De Menezes Filho, Hamilton ^b   Damiani, Durval ^b   Setian, Nuvarte ^b   Hanache, Omar Magid ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE;

AUTOSOMAL DOMINANT HYPOCALCEMIA; CALCIUM METABOLISM; CAR GENE; CASE REPORT; DNA SEQUENCE; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE; GENE INACTIVATION; GENE MUTATION; HUMAN; HYPERCALCEMIA; LETTER; NEONATAL SEVERE HYPERPARATHYROIDISM; PARATHYROIDECTOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING;

CHILD, PRESCHOOL; FEMALE; GENE SILENCING; HUMANS; HYPERCALCEMIA; POINT MUTATION; RECEPTORS, CALCIUM-SENSING;

EID: 10844237961     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2004.02163.x     Document Type: Letter

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