PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Human Molecular Genetics

Volumn 18, Issue 1, 2009, Pages 75-81

  Monnier, Carine ^a   Dodé, Catherine ^b   Fabre, Ludovic ^a   Teixeira, Luis ^b   Labesse, Gilles ^d   Pin, Jean Philippe ^a   Hardelin, Jean Pierre ^c   Rondard, Philippe ^a  

^a UNIV MONTPELLIER   (France)

^b INSTITUT COCHIN   (France)

^c Institut Pasteur   (France)

^d CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOCRINE GLAND DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; G PROTEIN COUPLED RECEPTOR; PROKINETICIN RECEPTOR 2; UNCLASSIFIED DRUG;

ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL SPECIFICITY; CONTROLLED STUDY; GENE ACTIVATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; KALLMANN SYNDROME; LIGAND BINDING; MISSENSE MUTATION; MUTANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; CALCIUM; CELL LINE; GASTROINTESTINAL HORMONES; HUMANS; KALLMANN SYNDROME; MICE; MODELS, MOLECULAR; MUTATION, MISSENSE; NEUROPEPTIDES; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE; SIGNAL TRANSDUCTION;

MURINAE;

EID: 57649205374     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn318     Document Type: Article

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