A novel mutation in the leptin gene (W121X) in an Egyptian family

Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c.135del3bp, c.398delG and c.481_482delCT). In this stud...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Mazen, Inas, Amr, Khalda, Tantawy, Sally, Farooqi, I. Sadaf, El Gammal, Mona
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121350/
https://ncbi.nlm.nih.gov/pubmed/27896126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.10.002
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