Article
Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.
BMC medical genomics - 27 Dec 2012
Volckmar Anna-Lena, Bolze Florian, Jarick Ivonne, Knoll Nadja, Scherag André, Reinehr Thomas, Illig Thomas, Grallert Harald, Wichmann Heinz-Erich, Wiegand Susanna, Biebermann Heike, Krude Heiko, Fischer-Posovszky Pamela, Rief Winfried, Wabitsch Martin, Klingenspor Martin, Hebebrand Johannes, Hinney Anke
Abstract excerpt
BACKGROUND: The SH2B1 gene (Src-homology 2B adaptor protein 1 gene) is a solid candidate gene for obesity. Large scale GWAS studies depicted markers in the vicinity of the gene; animal models suggest a potential relevance for human body weight regulation. METHODS: We performed a mutation screen f...
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