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...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121350/ |