Title : A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

Pub. Date : 2004 May

PMID : 15115517






3 Functional Relationships(s)
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1 Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Glycine collagen type VII alpha 1 chain Homo sapiens
2 Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Glycine collagen type VII alpha 1 chain Homo sapiens
3 Using PCR and direct sequence analysis we have identified a G-->T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). Glycine collagen type VII alpha 1 chain Homo sapiens