A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 9, 1999, Pages 3052-3057

  Schipani, E ^a   Langman, C ^f   Hunzelman, J ^a   Le Merrer, M ^c   Loke, K Y ^d   Dillon, M J ^e   Silve, C ^b   Juppner H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f CHILDREN'S MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ARGININE; CYCLIC AMP; HORMONE RECEPTOR; INOSITOL PHOSPHATE; ISOLEUCINE; MUTANT PROTEIN; PARATHYROID HORMONE; PHOSPHOLIPASE C;

ARTICLE; BLOOD LEVEL; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; DISEASE SEVERITY; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; JANSEN METAPHYSEAL CHONDRODYSPLASIA; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL PROCESSING;

EID: 0033305322     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.9.3052     Document Type: Article

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