𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

✍ Scribed by T. Ohta; K. Buiting; H. Kokkonen; S. McCandless; S. Heeger; H. Leisti; D.J. Driscoll; S.B. Cassidy; B. Horsthemke; R.D. Nicholls


Book ID
117852703
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
924 KB
Volume
64
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical spectrum and molecular diagnosi
✍ Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 305 KB πŸ‘ 2 views

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13

Molecular genetics of the long QT syndro
✍ Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 213 KB πŸ‘ 3 views

At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota