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A novel indel in exon 9 of APC upregulates a ‘skip exon 9' isoform and causes very severe familial adenomatous polyposis
Germline mutation in the adenomatous polyposis coli (APC) gene causes the majority (80%) of familial adenomatous polyposis (FAP), an autosomal dominantly inherited form of colorectal cancer (CRC). Mutation in 5′end of exon 9 of APC usually results in an attenuated form of FAP (aFAP), characterized b...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4023219/ https://ncbi.nlm.nih.gov/pubmed/24169521 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.245 |
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