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. 2003 Sep;87(9):1130–1134. doi: 10.1136/bjo.87.9.1130

Table 1.

Identified mutations in the XLRS1 pedigrees

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.