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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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| 發表在: | Mol Genet Metab Rep |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2014
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| 主題: | |
| 在線閱讀: | 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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