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1.
Figure 5

Figure 5. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

Haplotypes of 6p markers and segregation of c.1466A>G variation with the disease phenotype. A, In PKRP084. B, In PKRP111. C, In PKRP122. D, In PKRP171. Symbols are explained in the legend for Figure 1.

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.
2.
Figure 6

Figure 6. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

Sequence conservation of T380 and K489 residues in TULP1 orthologs (primates are green, placental mammals are blue, and vertebrates are purple). The arrows point to amino acid residues T380 and K489, which were mutated in individuals with autosomal recessive retinitis pigmentosa.

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.
3.
Figure 4

Figure 4. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

Forward and reverse sequence chromatograms in PKRP063. A, Individual 12, harboring wild-type allele. B, Individual 7, a heterozygous carrier. C, Individual 9, homozygous for the single base pair substitution c.1138A>G, resulting in threonine to alanine substitution (p.T380A).

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.
4.
Figure 2

Figure 2. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

Fundus photographs in PKRP063 showing right eyes (left) and left eyes (right). A, Individual 9. B, Individual 11. C, Individual 12. Shown are several features associated with retinitis pigmentosa, including waxy pallor of the optic disc, attenuated arterioles, atrophy of retinal pigment epithelium, and peripheral bone spicules.

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.
5.
Figure 3

Figure 3. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

Electroretinographic responses in PKRP063 showing combined rod and cone responses and isolated cone responses in right eyes (left panels) and left eyes (right panels). A and B, Individual 9. C and D, Individual 11. E and F, Individual 12. Electroretinographic recordings show no rod and cone response for affected individuals, with photopic flicker response absent as well.

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.
6.
Figure 1

Figure 1. From: Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families.

In PKRP063, haplotypes of 6p markers and segregation of c.1138A>G variation with the disease phenotype. A square represents a male individual; a circle, a female individual; shading, an affected individual; a double line, consanguinity; and a slash mark, a deceased individual. Haplotypes with alleles forming the risk haplotype are shaded black, and alleles not cosegregating with autosomal recessive retinitis pigmentosa are white.

Muhammad Iqbal, et al. Arch Ophthalmol. 2011 October;129(10):1351-1357.

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