Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement

Acta Dermato-Venereologica

Volumn 87, Issue 6, 2007, Pages 563-565

  Mansur, A Tülin ^a   Elcioglu, Nursei H ^b   Aydingöz, Ikbal E ^a   Akkaya, A Deniz ^a   Serdar, Zehra Asiran ^a   Herz, Corinna ^c   Bruckner Tuderman, Leena ^c   Has, Cristina ^c  

^a GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; GENE PRODUCT; GENOMIC DNA; KINDLIN 1; LIPID; MINERAL; PHOSPHOPROTEIN; PROTEIN; UNCLASSIFIED DRUG; VITAMIN; C20ORF42 PROTEIN, HUMAN; MEMBRANE PROTEIN; TUMOR PROTEIN;

ADOLESCENT; ADULT; BLISTER; CARBOHYDRATE DIET; CASE REPORT; DERMATOGLYPHICS; DIET THERAPY; ESOPHAGOGRAPHY; ESOPHAGOSCOPY; ESOPHAGUS DILATATION; ESOPHAGUS STENOSIS; FEMALE; GENE; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; INTESTINE MUCOSA; KERATODERMA; KINDLER SYNDROME; LETTER; LIPID DIET; MALE; MUTATION; NAIL DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOTOSENSITIVITY; POIKILODERMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DIET; SKIN ATROPHY; SYNDACTYLY; URETHRA STRICTURE; BULLOUS SKIN DISEASE; ESOPHAGUS DISEASE; GENETICS; GYNECOLOGIC DISEASE; MUCOSA; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHOTOSENSITIVITY DISORDER; SKIN DISEASE; SYNDROME;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL DISEASES; FEMALE; GENITAL DISEASES, FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUCOUS MEMBRANE; MUTATION; NEOPLASM PROTEINS; PHOTOSENSITIVITY DISORDERS; POLYMERASE CHAIN REACTION; SKIN DISEASES, GENETIC; SKIN DISEASES, VESICULOBULLOUS; SYNDROME;

EID: 38849119897     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0314     Document Type: Letter

References (15)