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A novel PTCH1 mutation in a patient with Gorlin syndrome
Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785514/ https://ncbi.nlm.nih.gov/pubmed/27081512 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.22 |
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