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International Journal of Colorectal Disease
Literature
1.
Farrell M, Hughes D, Drost M, Wallace A, Cummins R, Fletcher T et al (2013) Multivariate analysis of MLH1 c. 1664T> C (p. Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity. Fam Cancer 12(4):741–747
2.
Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, et al (2012) Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. Fam Cancer 11(3):509–518
3.
Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé À et al (2010) MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 70(19):7379–7391PubMedCrossRef
4.
Metadata
Title
Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome
Authors
J. L. Martín Ruiz
M. J. Alvarez-Cubero
F. Fernandez Rosado
E. Martinez Espín
C. Entrala Bernal
Publication date
01-08-2014
Publisher
Springer Berlin Heidelberg
Published in
International Journal of Colorectal Disease / Issue 8/2014
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI
https://doi.org/10.1007/s00384-014-1890-2

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International Journal of Colorectal Disease 8/2014 Go to the issue

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