Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR
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چکیده
منابع مشابه
Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
Williams-Beuren syndrome (WBS) is a rare genetic disorder (1/20,000-50,000) and is usually caused by a 1.5- to 1.8-Mb heterozygous deletion on chromosome 7q11.23. At least 25 genes have been identified in the deletion region in WBS patients, which is flanked by large low-copy-repeat sequences (> 320 kb). By using FISH as well as microsatellite analysis, it is not possible to get a precise ident...
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Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...
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ژورنال
عنوان ژورنال: International Journal of Molecular Medicine
سال: 2006
ISSN: 1107-3756,1791-244X
DOI: 10.3892/ijmm.18.5.799