A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

New England Journal of Medicine

Volumn 335, Issue 15, 1996, Pages 1115-1122

  Pearce, Simon H S ^a,b   Williamson, Catherine ^a   Kifor, Olga ^b   Bai, Mei ^b   Coulthard, Malcolm G ^c   Davies, Michael ^f   Lewis Barned, Nicholas ^e   Mccredie, David ^d   Powell, Harley ^f   Kendall Taylor, Pat ^c   Brown, Edward M ^b   Thakker, Rajesh V ^a,g  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^e UNIVERSITY OF OTAGO   (New Zealand)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; DNA; PARATHYROID HORMONE; RECEPTOR; VITAMIN D;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; HUMAN; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; MISSENSE MUTATION; ORAL DRUG ADMINISTRATION; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PARATHYROID HORMONE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SYNDROME;

EID: 10144256536     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199610103351505     Document Type: Article

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