Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 4, 1996, Pages 1312-1317

  Heath III, Hunter ^a   Odelberg, Shannon ^a   Jackson, Charles E ^b   Teh, Bin Tean ^c   Hayward, Nicholas ^d   Larsson, Catharina ^e   Buist, Neil R M ^f   Krapcho, Karen J ^g   Hung, Benjamin C ^g   Capuano, Irene V ^g   Garrett, James E ^g   Leppert, Mark F ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b HENRY FORD HOSPITAL   (United States)

^c PRINCESS ALEXANDRA HOSPITAL   (Australia)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g NPS Pharmaceutical Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM; DNA; MESSENGER RNA; PROTEIN; RECEPTOR;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 3Q; CHROMOSOME MAP; DNA POLYMORPHISM; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

EID: 9244231284     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.81.4.8636323     Document Type: Article

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