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- W2361387680 abstract "Objective To study the genotype-phenotype correlation of dystrophic epidermolysis bullosa with COL7A1 mutations.Methods 14 dystrophic epidermolysis bullosa families were collected,and immunofluorescence and electron microscopy were processed from skin biopsies.Venous blood samples were collected and genomic DNA was extracted.COL7A1 was screened for sequence mutations.Results Three dominant cases resulted from COL7A1 missense mutation.Among Hallopeau-Sieme cases,four combined two premature termination codon(PTC) mutations and three combined PTC and spice-site or glycine substitution variants.PTC and missense mutation resulted in non Hallopeau-Sieme cases in our study.Conclusion The dominant type usually involves glycine substitutions,while the recessive type involves nonsense,splice site,internal deletions or insertions mutations." @default.
- W2361387680 created "2016-06-24" @default.
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- W2361387680 date "2011-01-01" @default.
- W2361387680 modified "2023-09-25" @default.
- W2361387680 title "The COL7A1 gene mutations in dystrophic epidermolysis bullosa" @default.
- W2361387680 hasPublicationYear "2011" @default.
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