Article
Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.
Experimental dermatology - 1 Jun 2004
Rácz E, Csikós M, Kornsée Z, Horváth A, Kárpáti S
Abstract excerpt
Mutation analysis in the ATP2A2 gene had been performed in eight Hungarian patients with Darier's disease (DD), to get more information about phenotype-genotype relations. All patients had moderate to severe skin symptoms. Polymerase chain reaction (PCR) amplification of the entire coding region of ATP2A2 was performed. Mutation detection strategies included heteroduplex scanning by conformation-sensitive gel...
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