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Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

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Presentation on theme: "Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise."— Presentation transcript:

1 Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise Yan, Cynthia Chen, Stacey Fahrner, Suja Hiriyanna, Ricardo Fujita, Samuel G. Jacobson, Paul A. Sieving, Anand Swaroop  The American Journal of Human Genetics  Volume 64, Issue 3, Pages (March 1999) DOI: /302298 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Composite nucleotide sequence showing RP2 exons, including the coding region, and the exon-intron boundaries. The numbers on the right refer to the amino acid residues of the predicted RP2 protein. The American Journal of Human Genetics  , DOI: ( /302298) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Representative sequencing gels showing two of the RP2 mutations identified in this report. Sequences in the region of causative mutations are shown. The boxed sequence indicates the 2-bp insertion in patient A514. The location of the 13-bp deletion in patient A1137 is indicated by the horizontal bar. This patient also has a nucleotide substitution, indicated by an asterisk (*). The American Journal of Human Genetics  , DOI: ( /302298) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

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