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8. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. Pulkkinen L; Jonkman MF; McGrath JA; Kuijpers A; Paller AS; Uitto J Lab Invest; 1998 Jul; 78(7):859-67. PubMed ID: 9690563 [TBL] [Abstract][Full Text] [Related]
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11. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Dang N; Klingberg S; Marr P; Murrell DF J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959 [TBL] [Abstract][Full Text] [Related]
12. "Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Vaccaro M; Moretti G; Guarneri F; Cannavò S; Magaudda L Eur J Dermatol; 2000 Aug; 10(6):436-8. PubMed ID: 10980463 [TBL] [Abstract][Full Text] [Related]
13. A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. Gardella R; Barlati S; Zoppi N; Tadini G; Colombi M Hum Mutat; 2000 Sep; 16(3):275. PubMed ID: 10980546 [TBL] [Abstract][Full Text] [Related]
14. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Dang N; Murrell DF Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993 [TBL] [Abstract][Full Text] [Related]
15. A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Dunnill MG; Richards AJ; Milana G; Mollica F; Eady RA; Pope FM Hum Mol Genet; 1994 Sep; 3(9):1693-4. PubMed ID: 7833933 [No Abstract] [Full Text] [Related]
16. Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype. Shibusawa Y; Negishi I; Ishikawa O Int J Dermatol; 2006 Mar; 45(3):302-5. PubMed ID: 16533235 [TBL] [Abstract][Full Text] [Related]
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19. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. Hovnanian A; Duquesnoy P; Blanchet-Bardon C; Knowlton RG; Amselem S; Lathrop M; Dubertret L; Uitto J; Goossens M J Clin Invest; 1992 Sep; 90(3):1032-6. PubMed ID: 1355776 [TBL] [Abstract][Full Text] [Related]
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