Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Journal of Clinical Investigation

Volumn 99, Issue 8, 1997, Pages 1917-1925

  Bai, Mei ^a   Janicic, Natasa ^b   Trivedi, Sunita ^a   Quinn, Stephen J ^a   Cole, David E C ^c   Brown, Edward M ^a   Hendy, Geoffrey N ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b ROYAL VICTORIA HOSPITAL   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Alu repeat; hypercalcemia; hyperparathyroidism; transcription; translation

Indexed keywords

CALCIUM ION; GADOLINIUM; MUTANT PROTEIN; RECEPTOR PROTEIN;

ALU SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; EXON; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; PRIORITY JOURNAL; XENOPUS LAEVIS;

EID: 0030949485     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119359     Document Type: Article

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