Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the β4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia

American Journal of Pathology

Volumn 152, Issue 4, 1998, Pages 935-941

  Pulkkinen, Leena ^a,d   Bruckner Tuderman, Leena ^b   August, Christian ^c   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN; LEUCINE; MESSENGER RNA; POLYPEPTIDE; PROLINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ATRESIA; CASE REPORT; CODON; EPIDERMOLYSIS BULLOSA; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MALE; MICROSCOPY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PYLORUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSMISSION ELECTRON MICROSCOPY;

AMINO ACID SEQUENCE; ANTIGENS, CD; BLOTTING, WESTERN; EPIDERMOLYSIS BULLOSA; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INTEGRIN BETA4; INTEGRINS; INTESTINAL ATRESIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PYLORUS; TRANSCRIPTION, GENETIC;

EID: 0031941061     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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