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Monogenic forms of childhood obesity due to mutations in the leptin gene
Molecular and Cellular Pediatrics ( IF 2.4 ) Pub Date : 2014-09-04 , DOI: 10.1186/s40348-014-0003-1
Jan-Bernd Funcke 1 , Julia von Schnurbein 1 , Belinda Lennerz 1 , Georgia Lahr 2 , Klaus-Michael Debatin 2 , Pamela Fischer-Posovszky 1 , Martin Wabitsch 1
Affiliation  

Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.

中文翻译:

由于瘦素基因突变导致的儿童肥胖的单基因形式

先天性瘦素缺乏症是一种罕见的常染色体隐性单基因肥胖综合征,由瘦素基因突变引起。这篇综述描述了迄今为止在人类中发现的八种不同突变的分子和细胞特征。
更新日期:2014-09-04
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