The sound of silence: Autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

Experimental Dermatology

Volumn 22, Issue 4, 2013, Pages 251-254

  Goldsmith, Tomer ^a   Fuchs Telem, Dana ^a,b   Israeli, Shirli ^a   Sarig, Ofer ^a   Padalon Brauch, Gilly ^a   Bergman, Reuven ^c,d   Indelman, Margarita ^c   Sprecher, Eli ^a,b   Nousbeck, Janna ^a  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

ABCA12; Ichthyosis; Mutation; Silent; Splicing

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

ABCA12 GENE; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; MICROSATELLITE MARKER; PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

ADOLESCENT; ARABS; ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ISRAEL; MALE; MUTATION; PEDIGREE;

EID: 84875676787     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/exd.12110     Document Type: Article

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