Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa

Acta Dermato-Venereologica

Volumn 88, Issue 5, 2008, Pages 436-

  Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6 INTEGRIN; BETA4 INTEGRIN; INTERSTITIAL COLLAGENASE;

CLINICAL FEATURE; DISEASE SEVERITY; EDITORIAL; ENVIRONMENTAL FACTOR; EPIDERMOLYSIS BULLOSA; EPIGENETICS; FAMILY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; INTESTINE ATRESIA; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SKIN BIOPSY;

EPIDERMOLYSIS BULLOSA; HUMANS; INTEGRIN BETA4; MATRIX METALLOPROTEINASE 1; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PYLORUS;

EID: 53349102205     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0534     Document Type: Editorial

References (1)

1. Titeux M, Pendaries V, Tonasso L, Décha A, Bodemer C, Hovnanian A. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 2008; 29: 267-276.