Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia

Molecular Genetics and Metabolism

Volumn 71, Issue 4, 2000, Pages 591-598

  Conley, Yvette P ^a   Finegold, David N ^a   Peters, David G ^a   Cook, Jennifer S ^b   Oppenheim, Daniel S ^c   Ferrell, Robert E ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b Blank Children's Hospital   (United States)

^c MAINE MEDICAL CENTER   (United States)

Author keywords

Autosomal dominant hypocalcemia; Calcium sensing receptor; CASR

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; LUCIFERIN; PROTEIN KINASE C;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; HUMAN; HYPOCALCEMIA; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; RECEPTOR AFFINITY; REPORTER GENE;

EID: 0034520539     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3096     Document Type: Article

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