Gastroenterology

Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes
Leticia Plaza-Izurieta, Ainara Castellanos-Rubio, Iñaki Irastorza, Nora Fernández-Jimenez, Galder Gutierrez, CEGEC, Jose Ramon Bilbao

Journal of Medical Genetics Jul 2011, 48 (7) 493-496; DOI: 10.1136/jmg.2011.089714
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans
F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler

Journal of Medical Genetics Jan 2008, 45 (1) 47-54; DOI: 10.1136/jmg.2007.053561
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

Journal of Medical Genetics May 2007, 44 (5) 341-346; DOI: 10.1136/jmg.2006.045880
STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker
A Ivanova, S-Y Liao, M I Lerman, S Ivanov, E J Stanbridge

Journal of Medical Genetics Jul 2005, 42 (7) 565-576; DOI: 10.1136/jmg.2004.029835

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