Here, we report an RDEB patient with a mild phenotype carrying the first missense mutation, affecting the COLLVII CMP module, and one splicing mutation, leading to nonsense mediated RNA (NMR) decay.
The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa
RITELLI, Marco Giuseppe;ZOPPI, Nicoletta;VENTURINI, Marina;CALZAVARA PINTON, Piergiacomo;BARLATI, Sergio;COLOMBI, Marina
2009-01-01
Abstract
Here, we report an RDEB patient with a mild phenotype carrying the first missense mutation, affecting the COLLVII CMP module, and one splicing mutation, leading to nonsense mediated RNA (NMR) decay.File in questo prodotto:
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