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Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations

BACKGROUND: Lynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from intensive surveillance programs. One of the challenges with genetic testing is...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Sjursen, Wenche, McPhillips, Mary, Scott, Rodney J., Talseth‐Palmer, Bente A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4799874/
https://ncbi.nlm.nih.gov/pubmed/27064304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.198
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