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Mutation / Epidermolysis bullosa dystrophica / Collagen / type VII / alpha 1 / Recessive dystrophic epidermolysis bullosa / Epidermolysis bullosa / Point mutation / Missense mutation / Collagen / Anchoring fibrils / Biology / Genodermatoses / Collagen disease


Am. J. Hum. Genet. 58:[removed], 1996 Glycine Substitutions in the Triple-Helical Region of Type VII
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Hovnanian / GenBank / Chung-Honet LC / Shimizu / Siemens / /

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Singapore / /

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Jefferson Institute of Molecular Medicine / Jefferson Medical College / University of North Carolina / Chapel Hill / Skin Centre / Thomas Jefferson University / Rockefeller University / /

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amplification products / uncut product / restriction-enzyme site / donor splice site / restriction-enzyme-digestion products / heterozygous carrier / heterozygous carrier mothers / restriction enzyme site / /

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skin disorder / Ehlers-Danlos syndrome / similar metabolic disorder / Bart's syndrome / retinitis pigmentosa / several heritable connective tissue disorders / dystrophic epidermolysis bullosa / rod photoreceptor dysfunction / autosomal dominant disease / heritable connective tissue diseases / J (1995a) Pretibial epidermolysis bullosa / recessive dystrophic epidermolysis bullosa / epidermolysis bullosa / inherited skin disease / renal disease / human diseases / osteogenesis imperfecta / autosomal recessive retinitis pigmentosa / severe osteochondrodysplasia / autosomal recessive osteochondrodysplasia / common diseases / osteochondrodysplasia / blisters / age mitten deformities / neurometabolic disorder / Charcot-Marie-Tooth disease / unrelated neurometabolic disorder / skin disease / inherited epidermolysis bullosa / blister / myocardial infarction / diseases / Fine blisters / dominantly inherited disease / skin diseases / syndrome / disorders / /

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Hospital for Sick Children / American Society of Human Genetics / U.S. Public Health Service / British Association of Dermatologists / Structural / Dystrophic Epidermolysis Bullosa Research Association of America and the United Kingdom / 4National Skin Centre / Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry / Dimes Birth Defects Foundation / Dermatology Foundation / Jefferson Medical College / Thomas Jefferson University / Philadelphia / Rockefeller University / University of North Carolina / Chapel Hill / Jefferson Institute of Molecular Medicine / Department of Dermatology and Cutaneous Biology / /

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David Atherton / Jouni Uitto / Yili Xu / Eileen M. O'Shaughnessy / Xin Zhang / Angela M. Christiano / Ann Med / Hudson / /

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Royce PM / /

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Glycine / /

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North Carolina / /

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Molecular Biology / /

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Genomics / cloning / gel electrophoresis / /

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