A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 9, 1998, Pages 3365-3368

  Zhang, Ping ^a   Jobert, Anne Sixtine ^a   Couvineau, Alain ^a   Silve, Caroline ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIC AMP; DNA; GREEN FLUORESCENT PROTEIN; IODINE 125; PARATHYROID HORMONE RECEPTOR; PARATHYROID HORMONE RELATED PROTEIN; PARATHYROID HORMONE[1-34];

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; FEMALE; GENE EXPRESSION; GENETIC DISORDER; HUMAN; INFANT; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; RECEPTOR BINDING;

ANIMALS; BINDING, COMPETITIVE; CONSANGUINITY; COS CELLS; CYCLIC AMP; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUTATION; OSTEOCHONDRODYSPLASIAS; PARATHYROID HORMONE; PARATHYROID HORMONE-RELATED PROTEIN; PROTEINS; RECEPTOR, PARATHYROID HORMONE, TYPE 1; RECEPTORS, PARATHYROID HORMONE; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 0031769483     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.9.3365     Document Type: Article

References (16)

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