A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes

The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, (MLH1, PMS2, MSH6, and MSH2), is the cause of Lynch Syndrome (LS), which mai...

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Detalles Bibliográficos
Autores principales: Hansen, Maren F, Neckmann, Ulrike, Lavik, Liss A S, Vold, Trine, Gilde, Bodil, Toft, Ragnhild K, Sjursen, Wenche
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960061/
https://www.ncbi.nlm.nih.gov/pubmed/24689082
http://dx.doi.org/10.1002/mgg3.62

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960061/
https://www.ncbi.nlm.nih.gov/pubmed/24689082
http://dx.doi.org/10.1002/mgg3.62

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