Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity
BMC Medical Genetics(2018)
摘要
The current study highlights the implication of LEPR mutations in cases of severe early-onset obesity in consanguineous Pakistani families. Through targeted resequencing, we identified novel damaging mutations, and our approach may therefore be utilized in clinical testing or diagnosis of known forms of monogenic obesity with the aim of optimizing obesity treatment.
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关键词
Early-onset obesity, Hyperphagia, Leptin, Leptin receptor, Melanocortin 4 receptor, Monogenic obesity, Pakistani families, Targeted resequencing
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