204 related articles for article (PubMed ID: 7861014)
1. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
Christiano AM; Morricone A; Paradisi M; Angelo C; Mazzanti C; Cavalieri R; Uitto J
J Invest Dermatol; 1995 Mar; 104(3):438-40. PubMed ID: 7861014
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
Lee JY; Pulkkinen L; Liu HS; Chen YF; Uitto J
J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
[TBL] [Abstract][Full Text] [Related]
4. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Lee JY; Li C; Chao SC; Pulkkinen L; Uitto J
Arch Dermatol Res; 2000 Apr; 292(4):159-63. PubMed ID: 10836608
[TBL] [Abstract][Full Text] [Related]
5. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Christiano AM; Ryynänen M; Uitto J
Proc Natl Acad Sci U S A; 1994 Apr; 91(9):3549-53. PubMed ID: 8170945
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Mellerio JE; Salas-Alanis JC; Talamantes ML; Horn H; Tidman MJ; Ashton GH; Eady RA; McGrath JA
Br J Dermatol; 1998 Oct; 139(4):730-7. PubMed ID: 9892921
[TBL] [Abstract][Full Text] [Related]
8. Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.
Christiano AM; Bart BJ; Epstein EH; Uitto J
J Invest Dermatol; 1996 Jun; 106(6):1340-2. PubMed ID: 8752681
[TBL] [Abstract][Full Text] [Related]
9. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D
J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
[TBL] [Abstract][Full Text] [Related]
10. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
Winberg JO; Hammami-Hauasli N; Nilssen O; Anton-Lamprecht I; Naylor SL; Kerbacher K; Zimmermann M; Krajci P; Gedde-Dahl T; Bruckner-Tuderman L
Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
[TBL] [Abstract][Full Text] [Related]
11. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
Jonkman MF; Moreno G; Rouan F; Oranje AP; Pulkkinen L; Uitto J
J Invest Dermatol; 1999 May; 112(5):815-7. PubMed ID: 10233777
[TBL] [Abstract][Full Text] [Related]
12. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Kon A; Nomura K; Pulkkinen L; Sawamura D; Hashimoto I; Uitto J
J Invest Dermatol; 1997 Nov; 109(5):684-7. PubMed ID: 9347800
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
Cserhalmi-Friedman PB; Grossman J; Karpati S; Ahmad W; Horvath A; Christiano AM
Exp Dermatol; 1999 Apr; 8(2):143-5. PubMed ID: 10232407
[TBL] [Abstract][Full Text] [Related]
16. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Kon A; McGrath JA; Pulkkinen L; Nomura K; Nakamura T; Maekawa Y; Christiano AM; Hashimoto I; Uitto J
J Invest Dermatol; 1997 Feb; 108(2):224-8. PubMed ID: 9008239
[TBL] [Abstract][Full Text] [Related]
17. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
Christiano AM; Bart BJ; Epstein EH; Uitto J
J Invest Dermatol; 1996 Apr; 106(4):778-80. PubMed ID: 8618021
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
Ryoo YW; Kim BC; Lee KS
J Dermatol Sci; 2001 Jun; 26(2):125-32. PubMed ID: 11378329
[TBL] [Abstract][Full Text] [Related]
20. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
Christiano AM; Anton-Lamprecht I; Amano S; Ebschner U; Burgeson RE; Uitto J
Am J Hum Genet; 1996 Apr; 58(4):682-93. PubMed ID: 8644730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]