Robert Thaenert
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View article: P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform
P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform Open
Expansion of simple DNA sequence repeats is a common cause of hereditary neurological disease. Traditionally, PCR or Southern blotting have been used for the clinical detection of repeat expansions, though these methods suffer from laborio…