Estimated prevalence of potentially damaging variants in the leptin gene

BACKGROUND: Mutations in the leptin gene (LEP) can alter the secretion or interaction of leptin with its receptor, leading to extreme early-onset obesity. The purpose of this work was to estimate the prevalence of heterozygous and homozygous mutations in the leptin gene with the help of the Exome Ag...

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書誌詳細
出版年:Mol Cell Pediatr
主要な著者: Nunziata, Adriana, Borck, Guntram, Funcke, Jan-Bernd, Kohlsdorf, Katja, Brandt, Stephanie, Hinney, Anke, Moepps, Barbara, Gierschik, Peter, Debatin, Klaus-Michael, Fischer-Posovszky, Pamela, Wabitsch, Martin
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2017
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5670095/
https://ncbi.nlm.nih.gov/pubmed/29101506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40348-017-0074-x
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