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• W2022904932 abstract "Human MutationVolume 4, Issue 1 p. 76-78 Mutation in Brief Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency Pauline H. Yen, Corresponding Author Pauline H. Yen Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Search for more papers by this authorGiovanni B. Ferrero, Giovanni B. Ferrero Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030Search for more papers by this authorA. Craig Chinault, A. Craig Chinault Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030 Human Genome Center, Baylor College of Medicine, Houston, Texas 77030; Fax: 310-328-9921Search for more papers by this authorThuluvancheri Mohandas, Thuluvancheri Mohandas Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Search for more papers by this authorAndrea Ballabio, Andrea Ballabio Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030 Human Genome Center, Baylor College of Medicine, Houston, Texas 77030; Fax: 310-328-9921Search for more papers by this author Pauline H. Yen, Corresponding Author Pauline H. Yen Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Search for more papers by this authorGiovanni B. Ferrero, Giovanni B. Ferrero Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030Search for more papers by this authorA. Craig Chinault, A. Craig Chinault Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030 Human Genome Center, Baylor College of Medicine, Houston, Texas 77030; Fax: 310-328-9921Search for more papers by this authorThuluvancheri Mohandas, Thuluvancheri Mohandas Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, California 90502Search for more papers by this authorAndrea Ballabio, Andrea Ballabio Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030 Human Genome Center, Baylor College of Medicine, Houston, Texas 77030; Fax: 310-328-9921Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380040114Citations: 3AboutPDF 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 References Albertsen HM, Abderrahim H, Cann HM, Dausset J, LePasleir D, Cohen D (1990) Construction and characterization of a yeart artificial chromosome library containing seven haploid human genome equivalents. Proc Natl Acad Sci USA 87: 4256– 4260. Ballabio A, Andria G (1992) Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses: Human Mol Genet 1: 221– 227. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86: 10001– 10005. Bernatowicz LF, Li X-M, Carrozzo, R Ballabio A, Mohandas T, Yen PH, Shapiro LJ (1992) Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics 13: 892– 893. Green ED, Olson MV (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci USA 87: 1213– 1217. Lee W-C, Ferrero GB, Chinault AC, Yen PH, Ballabio A (1993) A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics 18: 1– 6. Schaefer L, Ferrero GB, Grille A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GB, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A (1993) A high resolution deletion map of human Xp22. Nature Genet 4: 272– 279. Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T (1989) Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 86: 8472– 8481. Yen PH, Li X-M, Tsai SP, Johnson C, Mohandas T, Shapiro LJ (1990) Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61: 603– 610. Citing Literature Volume4, Issue11994Pages 76-78 ReferencesRelatedInformation" @default.
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