Detection of a deletion of exons 8–16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay

Autor: Boyes, L., Wallace, A.J., Krajewska-Walasek, M., Chrzanowska, K.H., Clayton-Smith, J., Ramsden, S.
Zdroj: In European Journal of Medical Genetics 2006 49(6):472-480
Databáze: ScienceDirect