New Mutations Found in Children With Recessive DEB in Vietnam

New Mutations Found in Children With Recessive DEB in Vietnam

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New Mutations Found in Children With Recessive DEB in Vietnam

Three new mutations in the COL7A1 gene and five very rare variants were identified for the first time in children with recessive dystrophic epidermolysis bullosa (DEB) in Vietnam, a study reported. These findings expand “the spectrum of COL7A1 mutations” and may have implications for the genetic counseling of patients and their families, and in predicting likely disease progression, its scientists said. The study, “Novel and very rare causative variants in the COL7A1 gene of Vietnamese…

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