Pyloric atresia-junctional epidermolysis bullosa syndrome: Mutations in the integrin β4 gene (ITGB4) in two unrelated patients with mild disease

British Journal of Dermatology

Volumn 139, Issue 5, 1998, Pages 862-871

  Mellerio, J E ^a   Pulkkinen, L ^b   McMillan, J R ^a   Lake, B D ^c   Horn, H M ^d   Tidman, M J ^d   Harper, J I ^c   McGrath, J A ^a   Uitto, J ^b   Eady, R A J ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN;

ARTICLE; ATRESIA; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EPIDERMOLYSIS BULLOSA; EXON; GENE MUTATION; GENOTYPE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

ANTIGENS, CD; CHILD; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HUMANS; INTEGRIN BETA4; INTEGRINS; MALE; MUTATION; PEDIGREE; PYLORUS; SKIN; SYNDROME;

EID: 7844246149     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02515.x     Document Type: Article

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