A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases

Journal of Investigative Dermatology

Volumn 135, Issue 11, 2015, Pages 2876-2879

  Chmel, Nadja ^a   Danescu, Sorina ^b   Gruler, Amelie ^a   Kiritsi, Dimitra ^a   Bruckner Tuderman, Leena ^a   Kreuter, Alexander ^c   Kohlhase, Jürgen ^d   Has, Cristina ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^c St Elisabeth Hospital   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN; KINDLIN 1 PROTEIN; UNCLASSIFIED DRUG; FERMT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; TUMOR PROTEIN;

ADULT; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; EXON; FEMALE; FERMT1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRON; KERATINOCYTE; LETTER; MALE; MUTATIONAL ANALYSIS; POIKILODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SKIN BIOPSY; BLISTER; COMPARATIVE STUDY; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY; EPIDERMOLYSIS BULLOSA; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION; GENETICS; INCIDENCE; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PERIODONTAL DISEASE; PHOTOSENSITIVITY DISORDER; POLYMERASE CHAIN REACTION; PROCEDURES; RARE DISEASE; RISK ASSESSMENT;

ADULT; BLISTER; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; PERIODONTAL DISEASES; PHOTOSENSITIVITY DISORDERS; POLYMERASE CHAIN REACTION; RARE DISEASES; RISK ASSESSMENT; SAMPLING STUDIES;

EID: 84947021195     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.227     Document Type: Letter

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