Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/17640
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dc.contributor.authorVidal, Christopher-
dc.contributor.authorBorg, Joseph J.-
dc.contributor.authorXuereb-Anastasi, Angela-
dc.contributor.authorScerri, Christian A.-
dc.date.accessioned2017-03-20T10:29:35Z-
dc.date.available2017-03-20T10:29:35Z-
dc.date.issued2009-
dc.identifier.citationVidal, C., Borg, J., Xuereb-Anastasi, A., & Scerri, Christian A. (2009). Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease. Tissue Antigens, 73(3), 225–235.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar//handle/123456789/17640-
dc.description.abstractCoeliac disease (CD) is an autoimmune disorder characterised by inflammation, villous atrophy and hyperplasia of the small intestinal mucosa that affects genetically susceptible individuals. A genome-wide scan was performed in 17 family members with high incidence of CD. Highest nonparametric linkage (NPL) and logarithm of odds (LOD) scores were of 6.21 (P = 0.0107) and 2.57, respectively, to a region on chromosome 11p13-12. Following fine mapping, NPL and LOD scores did not change, but the linkage interval on chromosome 11 was narrowed to a region that is approximately 50.94 cM from pTer. Two inherited haplotypes on chromosomes 11p13-12 and 9q21 were observed in all affected members but not in the majority of clinically normal individuals. Sequencing of genes at region 11p13-12 showed a number of sequence variants, two of which were linked with the inherited haplotype. One of these variants in the CD59 gene was found at a very low frequency in the population and could possibly affect pre-messenger RNA splicing. This study is of particular importance for the identification of novel genes that might be responsible for CD other than human leukocyte antigen.en_GB
dc.language.isoenen_GB
dc.publisherJohn Wiley & Sons A/Sen_GB
dc.rightsinfo:eu-repo/semantics/openAccessen_GB
dc.subjectCeliac diseaseen_GB
dc.subjectCeliac disease -- Malta -- Case studiesen_GB
dc.subjectCeliac disease -- Genetic aspectsen_GB
dc.subjectRNA splicingen_GB
dc.titleVariants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac diseaseen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.description.reviewedpeer-revieweden_GB
dc.identifier.doi10.1111/j.1399-0039.2008.01193.x-
Appears in Collections:Scholarly Works - FacHScABS



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