Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

Heterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which – owing to extensive interparalog sequence exchange – closely resembles PMS2 downstream of exon 12. A rece...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wiley Subscription Services, Inc., A Wiley Company 2012
विषय:
Research Articles
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398144/
https://ncbi.nlm.nih.gov/pubmed/22585707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gcc.21966
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