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Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

AIM: To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer (HNPCC) family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylacti...

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Autori principali: Kadiyska, Tanya Kirilova, Kaneva, Radka Petrova, Nedin, Dimitar Georgiev, Alexandrova, Alexandrina Borisova, Gegova, Antonina Тodorova, Lalchev, Stoyan Ganchev, Christova, Tatyana, Mitev, Vanio Ivanov, Horst, Juergen, Bogdanova, Nadja, Kremensky, Ivo Marinov
Natura: Artigo
Lingua:Inglês
Pubblicazione: Baishideng Publishing Group Co., Limited 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4087554/
https://ncbi.nlm.nih.gov/pubmed/17203532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v12.i48.7848
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