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0028003651
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Cloning of human type VII collagen gene. Complete primary sequence of the α1(VII) chain and identification of intragenic polymorphism
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0028244102
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Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene
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0028348553
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Dominant dystrophic epidermolysis bullosa: Identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen
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0029085355
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Pretibial epidermolysis bullosa: Genetic linkage to COL1A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
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Christiano AM, Lee JYY, Chen WJ, LaForgia S, Uitto J: Pretibial epidermolysis bullosa: genetic linkage to COL1A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet 4:1579-1583, 1995a
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A glycine-to-arginine substitution in the triple helical domain ot type VII collagen
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Christiano AM, Morricone A, Paradisi M, Angelo C, Massanti C, Cavalieri R, Uitto J: A glycine-to-arginine substitution in the triple helical domain ot type VII collagen. J Invest Dermatol 104:438-440, 1995b
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Genetic basis of Bart's syndrome: A glycine substitution mutation in the type VII collagen gene
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Christiano AM, Hart BJ, Epstein EH Jr, Uitto J: Genetic basis of Bart's syndrome: A glycine substitution mutation in the type VII collagen gene. J Invest Dermatol 106:1340-1342. 1996a
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Glycine substitutions in the triplehelical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
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Christiano AM, McGrath JA, Tan KC, Uitto J: Glycine substitutions in the triplehelical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 58:671-681, 1996b
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Epidermolysis bullosa pruriginosa: A case report and review of literature
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Chen YF, Tang TM, Lee PL, Chang CC, Lee J YY: Epidermolysis bullosa pruriginosa: a case report and review of literature. Dermatol Sinica 13:213-222, 1995
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Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities
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Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene
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Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: Correlation with type VII collgen expression
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Human type VII collagen: Genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa
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Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin-5) genes
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Uitto J, Pulkkinen L, Christiano AM: Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin-5) genes. J Invest Dermatol 103:395-465, 1994
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