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Results: 1-8 |
Results: 8
PLAKOPHILIN-1 - PARTIAL GENOMIC ORGANIZATION AND MUTATIONS RESULTING IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME
Authors: MCGRATH JA MCMILLAN JR HOEGER PH MELLERLO JE ASHTON GHS HARPER JI EADY RAJ
Citation: Ja. Mcgrath et al., PLAKOPHILIN-1 - PARTIAL GENOMIC ORGANIZATION AND MUTATIONS RESULTING IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME, Journal of investigative dermatology, 110(4), 1998, pp. 473-473
ALLELIC HETEROGENEITY OF TYPE-VII COLLAGEN GENE (COL7A1) MUTATIONS INEPIDERMOLYSIS-BULLOSA PRURIGINOSA
Authors: MELLERLO JE ASHTON GHS SALASALANIS JC LYON CC GRIFFITHS WAD ATHERTON DJ EADY RAJ MCGRATH JA
Citation: Je. Mellerlo et al., ALLELIC HETEROGENEITY OF TYPE-VII COLLAGEN GENE (COL7A1) MUTATIONS INEPIDERMOLYSIS-BULLOSA PRURIGINOSA, Journal of investigative dermatology, 110(4), 1998, pp. 508-508
A RECURRENT GLYCINE SUBSTITUTION MUTATION, G2043R, IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE SALASALANIS JC TALAMANTES ML HORN H TIDMAN MJ ASHTON GHS EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., A RECURRENT GLYCINE SUBSTITUTION MUTATION, G2043R, IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA, British journal of dermatology, 139(4), 1998, pp. 730-737
FRAMESHIFT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 5 MEXICAN COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: SALASALANIS JC MELLERIO JE AMAYAGUERRA M ASHTON GHS EADY RAJ MCGRATH JA
Citation: Jc. Salasalanis et al., FRAMESHIFT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 5 MEXICAN COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, British journal of dermatology, 138(5), 1998, pp. 852-858
PREDICTION OF PHENOTYPE AND PROGNOSIS FROM MOLECULAR ANALYSIS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE ASHTON GHS DENYER JE ATHERTON DJ EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., PREDICTION OF PHENOTYPE AND PROGNOSIS FROM MOLECULAR ANALYSIS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 109(3), 1997, pp. 416-416
RECURRENT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE DUNNILL MGS ALLISON W ASHTON GHS CHRISTIANO AM UITTO J EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., RECURRENT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 109(2), 1997, pp. 246-249
RECURRENT MUTATIONS IN BRITISH PATIENTS WITH DYSTROPHIC AND JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA MELLERIO JE DUNNILL MGS ASHTON GHS CHRISTIANO AM PULKKINEN L UITLO J EADY RAJ
Citation: Ja. Mcgrath et al., RECURRENT MUTATIONS IN BRITISH PATIENTS WITH DYSTROPHIC AND JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 108(4), 1997, pp. 660-660
A RECURRENT LAMININ-5 MUTATION IN BRITISH PATIENTS WITH LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR A MUTATIONAL HOTSPOT RATHER THAN PROPAGATION OF AN ANCESTRAL ALLELE
Authors: ASHTON GHS MELLERIO JE DUNNILL MGS PULKKINEN L CHRISTIANO AM UITTO J EADY RAJ MCGRATH JA
Citation: Ghs. Ashton et al., A RECURRENT LAMININ-5 MUTATION IN BRITISH PATIENTS WITH LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR A MUTATIONAL HOTSPOT RATHER THAN PROPAGATION OF AN ANCESTRAL ALLELE, British journal of dermatology, 136(5), 1997, pp. 674-677
Risultati: 1-8 |