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rdf:type
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rdfs:seeAlso
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Description
| - Dominantly inherited diffuse gastric cancer (HDGC) syndrome caused by germline mutations in the CDH1 gene predisposes patients to the development of diffuse gastric cancer (DGC) and lobular breast cancer (LBC; Guilford et al., 1999; Pharoah et al., 2001). Although mutations in CDH1 play a major role in the development of these types of cancers, about 50% of sporadic DGC and LBC cases are caused by other somatic inactivation mechanisms of the CDH 1 gene, or associated proteins (Becker et al., 1994; Berx et al., 1996). Alt hough most somatic mutations in sporadic DGC cause exon 8 and 9 skipping, germ- line mutations span the whole length of the gene and show no major mutational hotspot (Berx et al., 1998; Corso et al., 2012). An investigation on splicing affection by a muta- tion c.2440-6C>G found in a patient diagnosed with HDGC has recently been reported in this journal (Molinaro et al., 2014).
- Dominantly inherited diffuse gastric cancer (HDGC) syndrome caused by germline mutations in the CDH1 gene predisposes patients to the development of diffuse gastric cancer (DGC) and lobular breast cancer (LBC; Guilford et al., 1999; Pharoah et al., 2001). Although mutations in CDH1 play a major role in the development of these types of cancers, about 50% of sporadic DGC and LBC cases are caused by other somatic inactivation mechanisms of the CDH 1 gene, or associated proteins (Becker et al., 1994; Berx et al., 1996). Alt hough most somatic mutations in sporadic DGC cause exon 8 and 9 skipping, germ- line mutations span the whole length of the gene and show no major mutational hotspot (Berx et al., 1998; Corso et al., 2012). An investigation on splicing affection by a muta- tion c.2440-6C>G found in a patient diagnosed with HDGC has recently been reported in this journal (Molinaro et al., 2014). (en)
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Title
| - No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
- No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay (en)
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skos:prefLabel
| - No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
- No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay (en)
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skos:notation
| - RIV/00216224:14740/14:00079363!RIV15-MSM-14740___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216224:14740/14:00079363
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - DIFFUSE GASTRIC-CANCER; E-CADHERIN; GERMLINE MUTATIONS; GENE; DISEASE (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - GENES CHROMOSOMES & CANCER
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Freiberger, Tomáš
- Ravčuková, Barbora
- Richterová, Radmila
- Grodecká, Lucie
- Lockerová, Pavla
- Augste, Eva
- Kováčová, Tatiana
- Kramárek, Michal
- Kyselová, Kateřina
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http://linked.open...ain/vavai/riv/wos
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issn
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number of pages
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http://bibframe.org/vocab/doi
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http://localhost/t...ganizacniJednotka
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