Authors:
SCHUMANN H
HAUASLI NH
PULKKINEN L
MAUVIEL A
KUSTER W
OWARIBE K
UITTO J
BRUCKNERTUDERMAN L
Citation: H. Schumann et al., THE LOCALISATA VARIANT OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA (JEB) IS ACOLLAGEN-XVII DISEASE, Journal of investigative dermatology, 109(3), 1997, pp. 410-410
Authors:
SCHUMANN H
HAUASLI NH
PULKKINEN L
MAUVIEL A
KUSTER W
LUTHI U
OWARIBE K
UITTO J
BRUCKNERTUDERMAN L
Citation: H. Schumann et al., CORRELATION OF THE GENOTYPE WITH BIOLOGICAL AND CLINICAL PHENOTYPES IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA (JEB), Journal of investigative dermatology, 108(4), 1997, pp. 152-152
Authors:
WINBERG JO
HAUASLI NH
NILSSEN O
ANTONLAMPRECHT I
NAYLOR S
KERBACHER K
ZIMMERMANN M
KRAJCI P
GEDDEDAHL T
BRUCKNERTUDERMAN L
Citation: Jo. Winberg et al., A RECESSIVE SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PROCESSING OF PROCOLLAGEN-VII AND, IN COMBINATION WITH GLYCINE SUBSTITUTION MUTATIONS, INCREASES THE CLINICAL SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA (EBD), Journal of investigative dermatology, 108(4), 1997, pp. 649-649
Authors:
HAUASLI NH
WINBERG JO
NILSSEN O
GEDDEDAHL T
BRUCKNERTUDERMAN L
Citation: Nh. Hauasli et al., COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN A FAMILY WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA - A GLYCINE SUBSTITUTION AND AN UNUSUAL SPLICE MUTATION, Journal of investigative dermatology, 107(3), 1996, pp. 191-191