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You searched for: Author/Creator Martin, Patricia E.

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1. A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies. Issue 10 (22nd September 2020)

2. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Issue 10 (10th May 2018)