Novel KIND1 gene mutation in kindler syndrome with severe gastrointestinal tract involvement

Archives of Dermatology

Volumn 142, Issue 12, 2006, Pages 1619-1624

  Sadler, Elke ^a   Klausegger, Alfred ^a   Muss, Wolfgang ^a   Deinsberger, Ursula ^b   Pohla Gubo, Gabriele ^a   Laimer, Martin ^a   Lanschuetzer, Christoph ^a   Bauer, Johann W ^a   Hintner, Helmut ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b Zentralklinikum St Pöelten ^*  (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; BODY REGIONS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DESCENDING COLON; FEMALE; GASTROINTESTINAL DISEASE; GENE MUTATION; GENODERMATOSIS; HEMORRHAGIC COLITIS; HOMOZYGOSITY; HUMAN; KINDLER SYNDROME; LABORATORY TEST; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; SEROLOGY; SIGMOID;

ADULT; BIOPSY; COLITIS, ULCERATIVE; COLONOSCOPY; DISEASE PROGRESSION; DNA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; NEOPLASM PROTEINS; PROGNOSIS; SKIN; SYNDROME;

EID: 33845699409     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.142.12.1619     Document Type: Article

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