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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2007-5-11
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pubmed:abstractText |
The melanocortin 4 receptor gene (MC4R) is involved in body weight regulation. While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. Our objective was to screen a population of children and adolescents from the north of Spain (Navarra) for MC4R mutations and to study the phenotypes of carriers and their families. In addition, functional assays were performed for a novel MC4R mutation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0300-0664
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pubmed:author |
pubmed-author:AzconaCC,
pubmed-author:BiebermannHH,
pubmed-author:BrummHH,
pubmed-author:ChuecaMM,
pubmed-author:Grupo de Estudio Navarro de la Obesidad Infantil (GENOI),
pubmed-author:HebebrandJJ,
pubmed-author:HinneyAA,
pubmed-author:MartínezJ AJA,
pubmed-author:MartiAA,
pubmed-author:Moreno-AliagaM JMJ,
pubmed-author:OchoaM CMC,
pubmed-author:OyarzabalMM,
pubmed-author:PatiñoAA,
pubmed-author:PelachRR,
pubmed-author:RazquinCC,
pubmed-author:WermterA-KAK
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
652-8
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pubmed:meshHeading |
pubmed-meshheading:17492953-Adolescent,
pubmed-meshheading:17492953-Animals,
pubmed-meshheading:17492953-COS Cells,
pubmed-meshheading:17492953-Case-Control Studies,
pubmed-meshheading:17492953-Cell Membrane,
pubmed-meshheading:17492953-Cercopithecus aethiops,
pubmed-meshheading:17492953-Child,
pubmed-meshheading:17492953-Child, Preschool,
pubmed-meshheading:17492953-Cyclic AMP,
pubmed-meshheading:17492953-Female,
pubmed-meshheading:17492953-Genotype,
pubmed-meshheading:17492953-Humans,
pubmed-meshheading:17492953-Male,
pubmed-meshheading:17492953-Mutation,
pubmed-meshheading:17492953-Obesity,
pubmed-meshheading:17492953-Overweight,
pubmed-meshheading:17492953-Pedigree,
pubmed-meshheading:17492953-Phenotype,
pubmed-meshheading:17492953-Receptor, Melanocortin, Type 4,
pubmed-meshheading:17492953-Spain,
pubmed-meshheading:17492953-Transfection
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pubmed:year |
2007
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pubmed:articleTitle |
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
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pubmed:affiliation |
Department of Physiology and Nutrition, University Clinic, University of Navarra, Pamplona (Navarra), Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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