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Haplotypes of four Mexican families carrying the p.Asp411Tyr mutation: families III and IV have no history of consanguinity but the mutation was homozygous, as well as the haplotypes. In probands of families II and V the mutation was heterozygous and associated with a second mutation. For patient II, DNA from parents was not available, but he harbors the CTC haplotype in one allele. For patient V, the CTC allele and p.Asp411Tyr mutation were inherited from her mother.
