Fig. 3

Mutations detected after comparisons using DNA-STAR. a exon1 CTC → CTG mutation (Leu → Leu) can be found in codon17 in six patients of this family(II1, II2, III4, III5, IV6, IV7). b exon1 ATC → CTC mutation (Ile → Leu) can be found in codon27 in four patients of this family (II2, III4, IV6, IV7). c exon4 GGG → GGC mutation (Gly → Gly) can be found in codon288 in one patient of this family (proband IV7). d intron4 G → T mutation in No. 15724 can be found in all seven patients