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Phenotypes in Three Pedigrees with Autosomal Dominant Obesity Caused by Haploinsufficiency Mutations in the Melanocortin-4 Receptor Gene
Recently, haploinsufficiency mutations in the melanocortin-4 receptor gene (MC4-R) were detected which were assumed to lead to the phenotype of extreme obesity. Previously, we detected three obese carriers among 306 index patients. Here we describe the detection of one haploinsufficiency carrier in...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The American Society
of Human Genetics
1999
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288360/ https://ncbi.nlm.nih.gov/pubmed/10577903 |
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