Figure 1  .

Mutation detection by sequencing. Mutations in exon 2 are shown for families MS11, MS13, and MS62 along with the normal sequence (N). The sequence for each is written under the chromatograms. For the frameshifts the mutant sequence is shown from the point at which the sequence becomes heterozygous, is in bold type, and is also indicated in the normal sequence. A 2 bp deletion and 4 bp duplication are boxed. The translated products are shown above and below the normal and mutant sequences respectively. The premature stop codons resulting from the frameshifts are underlined.