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Molecular Diagnosis of Prader-Willi and Angelman Syndromes by Methylation-Specific Melting Analysis and Methylation-Specific Multiplex Ligation-Dependent Probe Amplification

✍ Scribed by Procter, M.


Book ID
121846222
Publisher
American Association for Clinical Chemistry
Year
2006
Tongue
English
Weight
427 KB
Volume
52
Category
Article
ISSN
0009-9147

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Molecular diagnosis of the Prader-Willi
✍ BΓ€rbel Dittrich; Wendy P. Robinson; Hans Knoblauch; Karin Buiting; Kerstin Schmi πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 247 KB

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of