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A, Pedigree of IFCAS-28. Definitions of symbols are the same as in figure 1. B, Genomic DNA sequences of a normal (3) and affected (1) individuals. The affected individual carries a C→G substitution at nucleotide position 601 of the coding sequence. C, cDNA migration pattern of the normal (a) and mutated (b) alleles, for each member of the IFCAS family. D, cDNA sequences of the normal and mutated alleles. The mutated allele causes cryptic splicing, as is illustrated in the diagram.
