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Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was confirmed in pat...
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4402624/ https://ncbi.nlm.nih.gov/pubmed/25074460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.145 |
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