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Identification of a novel mutation of CX50 in a patient with total cataract. (A, B) Chromatograms show the sequence through the region of the GJA8 gene containing nucleotides 132–141 of the coding region from an unaffected (A) and from the affected (B) individual. (C) Diagram showing the predicted localization of the G46V missense mutation within the topology of CX50 in the plasma membrane.
