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- [1] A GLYCINE-TO-ARGININE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN IN A FAMILY WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSAJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (03) : 438 - 440CHRISTIANO, AMMORRICONE, APARADISI, MANGELO, CMAZZANTI, CCAVALIERI, RUITTO, J
- [3] PRETIBIAL EPIDERMOLYSIS-BULLOSA - GENETIC-LINKAGE TO COL7A1 AND IDENTIFICATION OF A GLYCINE-TO-CYSTEINE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGENHUMAN MOLECULAR GENETICS, 1995, 4 (09) : 1579 - 1583CHRISTIANO, AMLEE, JYYCHEN, WJLAFORGIA, SUITTO, J
- [4] PRETIBIAL EPIDERMOLYSIS-BULLOSA - GENETIC-LINKAGE TO COL7A1 AND IDENTIFICATION OF A GLYCINE-TO-CYSTEINE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGENJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (04) : 632 - 632LEE, JYYCHRISTIANO, AMCHEN, WJLAFORGIA, SUITTO, J
- [5] GENETIC-LINKAGE OF THE TYPE-VII COLLAGEN GENE (COL7A1) TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA (DDEB) IN FAMILIES WITH ABNORMAL ANCHORING FIBRILSCLINICAL RESEARCH, 1992, 40 (02): : A188 - A188UITTO, JRYYNANEN, MCHRISTIANO, AMHOVNANIAN, AFRANTZ, RBAUER, EAKNOWLTON, RG
- [6] GENETIC-LINKAGE OF THE TYPE-VII COLLAGEN GENE (COL7A1) TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA (DDEB) IN FAMILIES WITH ABNORMAL ANCHORING FIBRILSJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 98 (04) : 576 - 576UITTO, JRYYNANEN, MCHRISTIANO, AMHOVNANIAN, AFRANTZ, RBAUER, EAKNOWLTON, RG
- [7] HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DIFFERENT FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSAJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (06) : 854 - 854UITTO, JHOVNANIAN, ACHRISTIANO, AM
- [8] A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosaJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 108 (06) : 947 - 949Lee, JYYPulkkinen, LLiu, HSChen, YFUitto, J
- [9] Distinguishing between dominant and recessive glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosaBRITISH JOURNAL OF DERMATOLOGY, 2008, 159 : 32 - 32Almaani, N.Liu, L.Dopping-Hepenstal, P. D. C.McGrath, J. A.
- [10] Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (05) : 815 - 817Jonkman, MFMoreno, GRouan, FOranje, APPulkkinen, LUitto, J