A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

Journal of Investigative Dermatology

Volumn 139, Issue 5, 2019, Pages 1195-1198

  Vahidnezhad, Hassan ^a,b   Youssefian, Leila ^a,c,d   Saeidian, Amir Hossein ^a,d   Mansoori, Behzad ^e   Jazayeri, Ali ^f   Azizpour, Arghavan ^g   Hesari, Kambriz Kamyab ^g   Yousefi, Mehdi ^h,i   Zeinali, Sirous ^b,j   Jouanguy, Emmanuelle ^k,l   Casanova, Jean Laurent ^k,l,m   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b PASTEUR INSTITUTE OF IRAN   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f Drexel University   (United States)

^g TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

ⁱ TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^j Kawsar's Human Genetic Research Center   (Iran)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m ROCKEFELLER UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CIB1 PROTEIN; GENOMIC DNA; KERATOHYALIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ACANTHOSIS; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; B LYMPHOCYTE; BASAL CELL CARCINOMA; BONE METASTASIS; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL DIFFERENTIATION; CLINICAL ARTICLE; CLINICAL FEATURE; EPIDERMODYSPLASIA VERRUCIFORMIS; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOSITY; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; HUMAN PAPILLOMAVIRUS TYPE 5; HUMAN PAPILLOMAVIRUS TYPE 8; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOPHENOTYPING; KERATINIZATION; KERATINOCYTE; LOSS OF FUNCTION MUTATION; LOWER LIMB; MONOCYTE; NATURAL KILLER CELL; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PALMOPLANTAR KERATODERMA; PAPILLOMAVIRIDAE; PAPULE; PERSIAN (PEOPLE); PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKIN DEFECT; SQUAMOUS CELL CARCINOMA; THYMOCYTE; WHOLE EXOME SEQUENCING;

EID: 85060136906     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2018.11.011     Document Type: Article

References (10)

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