A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface
2009; Wiley; Volume: 149A; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.32669
ISSN1552-4833
Autores Tópico(s)Kruppel-like factors research
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 3 p. 552-554 Research Letter A patient with the Simpson–Golabi–Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface† Wen Shi, Wen Shi Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorJorge Filmus, Corresponding Author Jorge Filmus [email protected] Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, CanadaDivision of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Room S-220, Toronto, Ontario, Canada M4N 3M5.Search for more papers by this author Wen Shi, Wen Shi Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorJorge Filmus, Corresponding Author Jorge Filmus [email protected] Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, CanadaDivision of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Room S-220, Toronto, Ontario, Canada M4N 3M5.Search for more papers by this author First published: 12 February 2009 https://doi.org/10.1002/ajmg.a.32669Citations: 13 † How to cite this article: Shi W, Filmus J. 2009. A patient with the Simpson–Golabi–Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. Am J Med Genet Part A 149A:552–554. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Capurro M, Wanless IR, Sherman M, Deboer G, Shi W, Miyoshi E, Filmus J. 2003. Glypican-3: A novel serum and histochemical marker for hepatocellular carcinoma. Gastroenterology 125: 81–90. Capurro MI, Xu P, Shi W, Li F, Jia A, Filmus J. 2008. 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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: Identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet 9: 1321–1328. Citing Literature Volume149A, Issue3March 2009Pages 552-554 ReferencesRelatedInformation
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