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Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with...
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| Foilsithe in: | J Med Genet |
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| Main Authors: | , , , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BMJ Publishing Group
2020
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7231465/ https://ncbi.nlm.nih.gov/pubmed/31591141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106299 |
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