...PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Next-generation sequencing (NGS) was performed on an Illumi...
...PMS2CL copy-number mutations. These methods enable efficient and sensitive Lynch syndrome screening for 3' PMS2 copy-num...
...PMS2CL. Sequences of PMS2 and PMS2CL are so similar that next-generation sequencing (NGS) of short fragments-common prac...
...PMS2CL gene, and to mitochondrial genome heteroplasmy detection.
...PMS2CL share identical sequences as a result of gene conversion. Our approach allows unambiguous identification of mutat...
...PMS2CL. Therefore, for PMS2 mutation analysis, it is crucial to clearly distinguish PMS2 from its pseudogenes. We report...
...PMS2CL. This results in functional PMS2 alleles containing pseudogene-derived sequences at their 3'-end and in nonfuncti...
...PMS2CL, which has strong similarity to PMS2 exons 9 and 11-15, due to extensive gene conversion. A newly designed multip...
...PMS2CL in the remaining 3' exons (Exons 12-15). We have recently described an MLPA-based method that permits detection o...
...PMS2CL), which--owing to extensive interparalog sequence exchange--closely resembles PMS2 downstream of exon 12. A recen...
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