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. 2010 Sep 10;87(3):376–381. doi: 10.1016/j.ajhg.2010.07.018

Table 1.

FAM161A Mutations in Patients with Retinitis Pigmentosa

Index Patient ID Ethnic Origin Exon Nucleotide Change Allele Status Protein Variant
V-4 Indian 3 c.685C>T homozygous p.Arg229X
M09-0352 German 3 c.1309A>T homozygous p.Arg437X
arRP173 German 3 c.1309A>T homozygous p.Arg437X
arRP323 German 3 c.1309A>T homozygous p.Arg437X