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Article

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.

Proceedings of the Association of American Physicians - 1 Jul 1995

Uitto J, Hovnanian A, Christiano A M

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Share to Codon, Terminator
Share to Collagen
Share to Epidermolysis Bullosa
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 8624860

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Related research

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Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.PMID 8624860Read ↗

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Semantic proximity Read ↗

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.Semantic proximity Read ↗

A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.Semantic proximity Read ↗

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