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Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Küppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert HK, von Knebel Doeberitz M, Pox C; Peter Propping; German HNPCC consortium; Hegemann JH, Royer-Pokora B. Hardt K, et al. Fam Cancer. 2011 Jun;10(2):273-84. doi: 10.1007/s10689-011-9431-4. Fam Cancer. 2011. PMID: 21404117
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991322 No abstract available.
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Krüger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium. Goecke T, et al. J Clin Oncol. 2006 Sep 10;24(26):4285-92. doi: 10.1200/JCO.2005.03.7333. Epub 2006 Aug 14. J Clin Oncol. 2006. PMID: 16908935
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Müller-Koch Y, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P. Mangold E, et al. Int J Cancer. 2005 Sep 20;116(5):692-702. doi: 10.1002/ijc.20863. Int J Cancer. 2005. PMID: 15849733
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Hum Genet. 2005 May;116(6):533. Hum Genet. 2005. PMID: 15988825 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Hum Genet. 2005 May;116(6):540. Hum Genet. 2005. PMID: 15991319 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Hum Genet. 2005 May;116(6):540. Hum Genet. 2005. PMID: 15991320 No abstract available.
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