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Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn(Cecily P),Robles(Jorge),Swensen(Jeffr… Hum Mutat 2010-07-30

...PMS2CL by utilizing a long-range product spanning exons 11-15, with the forward primer anchored in exon 10, an exon not ...

Quantification of sequence exchange events between PMS2 and PMS2CL provides a b…

van der Klift(Heleen M),Tops(Carli M J),Bik(… Hum Mutat 2010-07-30

...PMS2CL. We investigated the frequency of such events with a nonspecific polymerase chain reaction (PCR) strategy, co-amp...

Functional PMS2 hybrid alleles containing a pseudogene-specific missense varian…

Ganster(Christina),Wernstedt(Annekatrin),Keh… Hum Mutat 2010-07-30

Sequence exchange between PMS2 and its pseudogene PMS2CL, embedded in an inverted duplication on chromosome 7p22, has be...

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circ…

Etzler(J),Peyrl(A),Zatkova(A),Schildhaus(H-U… Hum Mutat 2008-02-07

...PMS2CL. Using this assay, which is based on direct cDNA sequencing of RT-PCR products, we investigated two families with...

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hayward(Bruce E),De Vos(Michel),Valleley(Eli… Hum Mutat 2007-06-21

...PMS2CL pseudogene, lies within a 100-kb inverted duplication (inv dup), 700 kb centromeric to PMS2 itself on 7p22. Here,...

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in p…

Nakagawa(Hidewaki),Lockman(Janet C),Frankel(… Cancer Res 2004-09-09

...PMS2CL, showing 98% sequence identity with exons 9 and 11-15 of PMS2 and emanating from a locus close to PMS2 in chromos...

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