530 related articles for article (PubMed ID: 9804332)
21. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N; Liu L; Dopping-Hepenstal PJ; Lai-Cheong JE; Wong A; Nanda A; Moss C; Martinéz AE; Mellerio JE; McGrath JA
Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
[TBL] [Abstract][Full Text] [Related]
22. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
Hammami-Hauasli N; Schumann H; Raghunath M; Kilgus O; Lüthi U; Luger T; Bruckner-Tuderman L
J Biol Chem; 1998 Jul; 273(30):19228-34. PubMed ID: 9668111
[TBL] [Abstract][Full Text] [Related]
23. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
Betts CM; Posteraro P; Costa AM; Varotti C; Schubert M; Bruckner-Tuderman L; Castiglia D
Br J Dermatol; 1999 Nov; 141(5):833-9. PubMed ID: 10583163
[TBL] [Abstract][Full Text] [Related]
24. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
Gardella R; Belletti L; Zoppi N; Marini D; Barlati S; Colombi M
Am J Hum Genet; 1996 Aug; 59(2):292-300. PubMed ID: 8755915
[TBL] [Abstract][Full Text] [Related]
25. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM; Suga Y; Greenspan DS; Ogawa H; Uitto J
J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
Zhang XJ; Song YX; Zhang XQ; Yang S; Li M; Li CR; Yang CJ; Yang J
Clin Exp Dermatol; 2003 Jul; 28(4):437-9. PubMed ID: 12823310
[TBL] [Abstract][Full Text] [Related]
28. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
Jiang W; Bu D; Yang Y; Zhu X
Acta Derm Venereol; 2002; 82(3):187-91. PubMed ID: 12353709
[TBL] [Abstract][Full Text] [Related]
29. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
Lin Y; Chen XJ; Liu W; Gong B; Xie J; Xiong JH; Cheng J; Duan XL; Lin ZC; Huang LL; Wan HY; Liu XQ; Song LH; Yang ZL
PLoS One; 2012; 7(11):e50579. PubMed ID: 23226319
[TBL] [Abstract][Full Text] [Related]
30. Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
Cserhalmi-Friedman PB; Karpati S; Horvath A; Christiano AM
Exp Dermatol; 1997 Dec; 6(6):303-7. PubMed ID: 9412818
[TBL] [Abstract][Full Text] [Related]
31. Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
Masunaga T; Shimizu H; Takizawa Y; Uitto J; Nishikawa T
J Invest Dermatol; 2000 Jan; 114(1):204-5. PubMed ID: 10620140
[No Abstract] [Full Text] [Related]
32. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Christiano AM; McGrath JA; Tan KC; Uitto J
Am J Hum Genet; 1996 Apr; 58(4):671-81. PubMed ID: 8644729
[TBL] [Abstract][Full Text] [Related]
33. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Mellerio JE; Ashton GH; Mohammedi R; Lyon CC; Kirby B; Harman KE; Salas-Alanis JC; Atherton DJ; Harrison PV; Griffiths WA; Black MM; Eady RA; McGrath JA
J Invest Dermatol; 1999 Jun; 112(6):984-7. PubMed ID: 10383749
[TBL] [Abstract][Full Text] [Related]
34. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.
Gardella R; Zoppi N; Zambruno G; Barlati S; Colombi M
Br J Dermatol; 2002 Sep; 147(3):450-7. PubMed ID: 12207583
[TBL] [Abstract][Full Text] [Related]
35. Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.
Chao SC; Lee JY
J Formos Med Assoc; 2007 Jan; 106(1):86-91. PubMed ID: 17282977
[TBL] [Abstract][Full Text] [Related]
36. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
Ishiko A; Masunaga T; Ota T; Nishikawa T
Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
[TBL] [Abstract][Full Text] [Related]
37. Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.
Kim J; Kim SC; Yasukawa K; Shimizu H
J Dermatol Sci; 2003 Dec; 33(3):180-3. PubMed ID: 14643524
[No Abstract] [Full Text] [Related]
38. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
Mellerio JE; Salas-Alanis JC; Amaya-Guerra M; Tamez E; Ashton GH; Mohammedi R; Eady RA; McGrath JA
Exp Dermatol; 1999 Feb; 8(1):22-9. PubMed ID: 10206718
[TBL] [Abstract][Full Text] [Related]
39. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Christiano AM; Lee JY; Chen WJ; LaForgia S; Uitto J
Hum Mol Genet; 1995 Sep; 4(9):1579-83. PubMed ID: 8541842
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]