Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE

Human Mutation

Volumn 28, Issue 3, 2007, Pages 294-302

  Alharbi, Khalid K ^a   Spanakis, Emmanuel ^a   Tan, Karen ^b   Smith, Matt J ^a   Aldahmesh, Mohammed A ^a   O'Dell, Sandra D ^a   Sayer, Avan Aihie ^c   Lawlor, Debbie A ^d   Ebrahim, Shah ^e   Smith, George Davey ^d   O'Rahilly, Stephen ^c   Farooqi, Sadaf ^b   Cooper, Cyrus ^c   Phillips, David I W ^c   Day, Ian N M ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d London School of Hygiene and Tropical Medicine ^*  (United Kingdom)

^e LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

Author keywords

MC4R; Melanocortin 4 receptor; meltMADGE; Mutation scanning; Obesity; Paucimorphism

Indexed keywords

CYCLIC AMP; LUCIFERASE; MELANOCORTIN 4 RECEPTOR;

ADULT; AGED; ANTHROPOMETRY; ARTICLE; BODY MASS; DEVICE; DNA POLYMORPHISM; EUROPE; FEMALE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OBESITY; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; UNITED KINGDOM;

AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID DENATURATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, MELANOCORTIN, TYPE 4; TEMPERATURE;

EID: 33847186636     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20404     Document Type: Article

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