Darier disease in Slovenia: Spectrum of ATP2A2 mutations and relation to patients' phenotypes

European Journal of Dermatology

Volumn 20, Issue 3, 2010, Pages 271-275

  Godic, Aleksandar ^a   Stražišar, Mojca ^a   Zupan, Andrej ^a   Korošec, Branka ^a   Kansky, Aleksej ^b   Glavač, Damjan ^a  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

ATP2A2; Darier; Deafness; Genotype; Mutation; Phenotype

Indexed keywords

GENOMIC DNA; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DARIER DISEASE; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; INTRON; MALE; MISSENSE MUTATION; PROTEIN DOMAIN; SLOVENIA; SPLICING DEFECT;

ADOLESCENT; ADULT; AGED; DARIER DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; SLOVENIA; YOUNG ADULT;

EID: 77952857211     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2010.0913     Document Type: Article

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