Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Little is known about the genetic factors that contribute to familial colorectal cancer type X (FCCX), characterized by hereditary nonpolyposis colorectal carcinoma with no mismatch repair defects. Genetic linkage analysis, exome sequencing, tumor studies, and functional investigations of 4 generati...

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Bibliografiske detaljer
Main Authors: Nieminen, Taina T., O’Donohue, Marie-Françoise, Wu, Yunpeng, Lohi, Hannes, Scherer, Stephen W., Paterson, Andrew D., Ellonen, Pekka, Abdel-Rahman, Wael M., Valo, Satu, Mecklin, Jukka-Pekka, Järvinen, Heikki J., Gleizes, Pierre-Emmanuel, Peltomäki, Päivi
Format: Artigo
Sprog:Inglês
Udgivet: W.B. Saunders 2014
Fag:
Original Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4155505/
https://ncbi.nlm.nih.gov/pubmed/24941021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2014.06.009
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