Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

Journal of Clinical Investigation

Volumn 122, Issue 5, 2012, Pages 1742-1746

  Kiritsi, Dimitra ^a   He, Yinghong ^a   Pasmooij, Anna M G ^b   Onder, Meltem ^c   Happle, Rudolf ^a   Jonkman, Marcel F ^b   Bruckner Tuderman, Leena ^a,d   Has, Cristina ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BASE MISPAIRING; CHILD; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FERMT1 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENODERMATOSIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KERATINOCYTE; MALE; MITOTIC RECOMBINATION; MOSAICISM; NUCLEOTIDE REPEAT; POIKILODERMA; PRIORITY JOURNAL; REVERTANT; SCHOOL CHILD; SKIN ATROPHY; SKIN DEFECT; SKIN FRAGILITY; SKIN PIGMENTATION;

ADOLESCENT; ADULT; BASE SEQUENCE; BLISTER; CHILD; CONSANGUINITY; EPIDERMOLYSIS BULLOSA; FEMALE; FRAMESHIFT MUTATION; HUMANS; INDEL MUTATION; MALE; MEMBRANE PROTEINS; MOSAICISM; NEOPLASM PROTEINS; PERIODONTAL DISEASES; PHOTOSENSITIVITY DISORDERS; RECOMBINATION, GENETIC; REMISSION, SPONTANEOUS; SKIN; YOUNG ADULT;

EID: 84860593668     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI61976     Document Type: Article

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