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Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q.

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Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q.

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dc.contributor.author Hou, Aihua.
dc.contributor.author Lin, Shuan Pei.
dc.contributor.author Ho, Shi Yun.
dc.contributor.author Chen, Jennifer Chi Fung.
dc.contributor.author Lin, Hsiang Yu.
dc.contributor.author Chen, Yen Jiun.
dc.contributor.author Huang, Chi Yu.
dc.contributor.author Chiu, Hui Ching.
dc.contributor.author Chuang, Chih Kuang.
dc.contributor.author Chen, Ken-Shiung.
dc.date.accessioned 2011-10-06T07:59:57Z
dc.date.available 2011-10-06T07:59:57Z
dc.date.copyright 2010
dc.date.issued 2011-10-06
dc.identifier.citation Hou, A., Lin, S. P., Ho, S. Y., Chen, J. C. F., Lin, S. Y., Chen, Y. J., etc. (2010). Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q. Annals of human genetics, 75(2).
dc.identifier.uri http://hdl.handle.net/10220/7172
dc.description.abstract Prader-Willi syndrome (PWS) is a neurogenetic disorder associated with recurrent genomic recombination involving low copy repeats (LCRs) located in the human chromosome 15q11-q13. Previous studies of PWS patients from Asia suggested that there is a higher incidence of deletion and lower incidence of maternal uniparental disomy (mUPD) compared to that of Western populations. Despite a lack of data from Asians regarding the incident of deletion subtypes to allow for further comparison, it has previously been proposed that ethnic differences in genomic architecture may be responsible for the discrepancy in genetic etiology observed. In this report, we present genetic etiology of twenty-eight PWS patients from Taiwan. Consistent with the genetic etiology findings from Western populations, the type II deletion appears to be the most common deletion subtype.
dc.format.extent 18 p.
dc.language.iso en
dc.relation.ispartofseries Annals of human genetics
dc.rights © 2010 The Authors. Annals of Human Genetics © 2010 Blackwell Publishing Ltd/University College London. This is the author created version of a work that has been peer reviewed and accepted for publication by Annals of human genetics, Blackwell Publishing Ltd/University College London. It incorporates referee’s comments but changes resulting from the publishing process, such as copyediting, structural formatting, may not be reflected in this document. The published version is available at: http://dx.doi.org/10.1111/j.1469-1809.2010.00633.x.
dc.subject DRNTU::Science::Biological sciences::Genetics.
dc.title Genetic studies of Prader-Willi patients from Taiwan identify two patients with atypical deletions and provide evidences for conservation of genomic architecture in proximal chromosome 15q.
dc.type Journal Article
dc.contributor.school School of Biological Sciences
dc.identifier.doi http://dx.doi.org/10.1111/j.1469-1809.2010.00633.x
dc.description.version Accepted version

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