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Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

✍ Scribed by Oronzo Scarciolla; Liborio Stuppia; Maria Vittoria De Angelis; Stefania Murru; Chiara Palka; Rossella Giuliani; Marta Pace; Antonio Di Muzio; Isabella Torrente; Annunziata Morella; Paola Grammatico; Manlio Giacanelli; Maria Cristina Rosatelli; Antonino Uncini; Bruno Dallapiccola


Book ID
106257149
Publisher
Springer
Year
2006
Tongue
English
Weight
272 KB
Volume
7
Category
Article
ISSN
1364-6745

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## Abstract We evaluated the efficacy of PCR‐RFLP, competitive multiplex PCR, and a commercially available system of multiplex ligation‐dependent probe amplification (MLPA) for the determination of deletion and duplication genotypes of the __PMP22__ gene. We compared the methods for efficiency, sen