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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

Fig. 1

a Electropherogram of intron 2/exon3 sequence of PRRT2 in the patient. Note the G > A transition (arrow) c.880-35G > A. b Different sized wild-type (=179 bp) and mutant (=211 bp) PCR products on an ethidium bromide stained gel. Lane 1: molecular weight standard (MW), Lane 2: positive control DNA (human placental), Lane 3: negative control (water), Lane 4–6: DNA of the family members investigated. c Novel splice acceptor site due to c.880-35G > A and altered sequence of exon 3 of the PRRT2 transcript

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