Table 1.
Pedigree | Exon | Mutation | Protein |
70 | 5 | 336 G->T | Trp 112Cys |
140 | 5 | 336 G->T | Trp 112Cys |
80 | 6 | 533 G->A | Gly178Asp |
93 | 4 | 214 G->A | Glu 72 Lys |
180 | 4 | 214 G->A | Glu 72 Lys |
101 | 5 | 366 G->C | Trp 122 Cys* |
173 | 4 | 305 G->A | Arg 102 Gln |
201 | 4 | 242 T->A | Ile 81 Asp* |
*New mutation.