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ajmg_33862_sm_SuppFig1.tif828KFig. 1: Retinal appearance in retinitis pigmentosa-nanophthalmos. Fundus eye photograph (composite images) of patient 1 showing conspicuous clumping of pigment resulting in generalized nummular pigmented lesions. (A), right eye; (B), left eye.
ajmg_33862_sm_SuppFig2.tif145KFig. 2: CRB1 gene mutation in familial retinitis pigmentosa-nanophthalmos. A: Partial nucleotidic sequence of CRB1 exon 5 in DNA from patient 1 showing a homozygous c.1125C>G variant, which predicts p.Tyr375X. Compare this electropherogram with the normal sequence shown in B. Sequence analysis in DNA from patient 2 showed an identical mutation (not shown). C,D: Partial DNA sequence of CRB1 exon 5 shows heterozygosity for the c.1125C>G mutation in DNAs from patients' mother (C) and father (D). The arrow points to the mutated nucleotide.
ajmg_33862_sm_SuppTab1.doc51KTable I: Oligonucleotide primer pairs for the amplification of the CRB1 gene.

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