A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 4, 2000, Pages 1695-1702

  Lienhardt, Anne ^a,e,f   Garabédian, Michèle ^b   Bai, Mei ^c   Sinding, Christiane ^b   Zhang, Zaixiang ^c   Lagarde, Jean Pierre ^d   Boulesteix, Jean ^a   Rigaud, Michel ^e   Brown, Edward M ^c   Kottler, Marie Laure ^d  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF LIMOGES   (France)

^f DUPUYTREN UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; COMPLEMENTARY DNA; G PROTEIN COUPLED RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HYPOCALCEMIA; MALE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ADULT; BASE SEQUENCE; CELL LINE; CHILD; CYTOPLASM; DNA, COMPLEMENTARY; EMBRYO; FEMALE; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPOCALCEMIA; INFANT, NEWBORN; KIDNEY; MALE; MIDDLE AGED; PEDIGREE; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 17744364491     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.4.1695     Document Type: Article

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