Genetic Screening for Melanocortin-4 Receptor Mutations in a Cohort of Italian Obese Patients: Description and Functional Characterization of a Novel Mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 2, 2004, Pages 904-908

  Santini, Ferruccio ^a   Maffei, Margherita ^a   Ceccarini, Giovanni ^a   Pelosini, Caterina ^a   Scartabelli, Giovanna ^a   Rosellini, Veronica ^a   Chiellini, Chiara ^a   Marsili, Alessandro ^a   Lisi, Simonetta ^a   Tonacchera, Massimo ^a   Agretti, Patrizia ^a   Chiovato, Luca ^b   Mammoli, Claudia ^a   Vitti, Paolo ^a   Pinchera, Aldo ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERMEDIN; CYCLIC AMP; GLUTAMIC ACID; ISOLEUCINE; LEUCINE; LIGAND; LYSINE; MELANOCORTIN 4 RECEPTOR; PHENYLALANINE; SERINE; VALINE;

ADULT; AGED; ARTICLE; BINDING AFFINITY; COHORT ANALYSIS; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MELANOCORTIN 4 RECEPTOR GENE; MISSENSE MUTATION; OBESITY; PATHOGENICITY; PATIENT; PHENOTYPE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; RADIOACTIVITY; STIMULATION; WILD TYPE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COHORT STUDIES; COS CELLS; FEMALE; GENETIC SCREENING; GLUTAMIC ACID; HETEROZYGOTE; HUMANS; ITALY; LYSINE; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; OBESITY; PEDIGREE; PHENYLALANINE; RECEPTOR, MELANOCORTIN, TYPE 4; SERINE;

EID: 10744227887     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031175     Document Type: Article

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