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“A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa”, vol. 12, pp. 678-682, 2013.
, Christiano AM, Anhalt G, Gibbons S, Bauer EA, et al. (1994). Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 21: 160-168.
http://dx.doi.org/10.1006/geno.1994.1238
PMid:8088783
Christiano AM, Hoffman GG, Zhang X, Xu Y, et al. (1997). Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum. Mutat. 10: 408-414.
http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3
Dang N and Murrell DF (2008). Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp. Dermatol. 17: 553-568.
http://dx.doi.org/10.1111/j.1600-0625.2008.00723.x
PMid:18558993
Fine JD, Eady RA, Bauer EA, Briggaman RA, et al. (2000). Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J. Am. Acad. Dermatol. 42: 1051-1066.
http://dx.doi.org/10.1067/mjd.2000.106369
PMid:10827412
Holbrook KA, Smith LT and Elias S (1993). Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch. Dermatol. 129: 1437-1454.
http://dx.doi.org/10.1001/archderm.1993.01680320071010
PMid:8239702
Jarvikallio A, Pulkkinen L and Uitto J (1997). Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum. Mutat. 10: 338-347.
http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B
Smith FJ, Eady RA, Leigh IM, McMillan JR, et al. (1996). Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat. Genet. 13: 450-457.
http://dx.doi.org/10.1038/ng0896-450
PMid:8696340
Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, et al. (1997). Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab. Invest. 76: 209-217.
PMid:9042157
Tamai K, Murai T, Mayama M, Kon A, et al. (1999). Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. J. Invest. Dermatol. 112: 991-993.
http://dx.doi.org/10.1046/j.1523-1747.1999.00601.x
PMid:10383751
Tosti A, Piraccini BM and Scher RK (2003). Isolated nail dystrophy suggestive of dominant dystrophic epidermolysis bullosa. Pediatr. Dermatol. 20: 456-457.
http://dx.doi.org/10.1046/j.1525-1470.2003.20422.x
PMid:14521572