Detection of a deletion of exons 8–16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference15 articles.
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3. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader–Willi syndrome;Burger;Am. J. Med. Genet.,2002
4. Angelman syndrome: a review of the clinical and genetic aspects;Clayton-Smith;J. Med. Genet.,2003
5. The spectrum of mutations in UBE3A causing Angelman syndrome;Fang;Hum. Mol. Genet.,1999
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1. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2020-08-01
2. Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature;BMC Medical Genetics;2017-11-21
3. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene;Cytogenetic and Genome Research;2017
4. Hot Cell-Direct PCR Aimed at Specific Cell Detection;Polymerase Chain Reaction for Biomedical Applications;2016-12-14
5. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2016-11-18
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