Molecular characterization of 11 Italian patients with darier disease

European Journal of Dermatology

Volumn 21, Issue 3, 2011, Pages 334-338

  Pedace, Lucia ^a   Barboni, Luana ^a   Pozzetto, Erika ^a   Amantea, Ada ^b   Zambruno, Giovanna ^c   Preziosi, Nicoletta ^a   Benedicenti, Francesco ^d   Boni, Stefania ^e   de Brasi, Davide ^f   Panetta, Chiara ^b   Ferraro, Carmela ^b   de Bernardo, Carmelilia ^a   Castori, Marco ^a   Grammatico, Paola ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^d CENTRAL HOSPITAL OF BOLZANO   (Italy)

^e SAN MARTINO HOSPITAL   (Italy)

^f S G MOSCATI HOSPITAL   (Italy)

Author keywords

ATP2A2; Deletion; Duplication; Missense; Nonsense; Splicesite mutation

Indexed keywords

ADENINE; GENOMIC DNA; GUANINE;

ADOLESCENT; ADULT; ARTICLE; ATP2A2 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER MODEL; DARIER DISEASE; DNA SEQUENCE; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; ITALIAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PREDICTION; RNA SPLICING;

ADOLESCENT; ADULT; CHILD; DARIER DISEASE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; ITALY; MALE; MUTATION; PEDIGREE; PREVALENCE; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; YOUNG ADULT;

EID: 79960805177     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2011.1339     Document Type: Article

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