Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and Genotype-phenotype correlations

Journal of Investigative Dermatology

Volumn 120, Issue 4, 2003, Pages 601-609

  Richard, Gabriele ^a,b   Brown, Nkecha ^a   Rouan, Fatima ^a   Van Der Schroeff, Jan Gerrit ^b   Bijlsma, Emilia ^c   Eichenfield, Lawrence F ^d   Sybert, Virginia P ^e   Greer, Kenneth E ^f   Hogan, Peter ^g   Campanelli, Carmen ^a   Compton, John G ^j,k   Bale, Sherri J ^j,k   DiGiovanna, John J ^h,i   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b JULIANA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d RADY CHILDREN'S HOSPITAL   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF VIRGINIA MEDICAL CENTER   (United States)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h BROWN UNIVERSITY   (United States)

ⁱ NATIONAL CANCER INSTITUTE   (United States)

^j NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^k GENEDX   (United States)

more..

Author keywords

Connexin; Epidermal differentiation; Erythrokeratodermia variabilis; Gap junction communication; Mutation

Indexed keywords

GAP JUNCTION PROTEIN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EPIDEMIC; ERYTHROKERATODERMA FIGURATA VARIABILIS; GAP JUNCTION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERKERATOSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKIN DISEASE;

EID: 0037378471     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12080.x     Document Type: Article

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