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One NF1 Mutation may Conceal Another
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, w...
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| 出版年: | Genes (Basel) |
|---|---|
| 主要な著者: | , , , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6769760/ https://ncbi.nlm.nih.gov/pubmed/31443423 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10090633 |
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