In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be causative for RP. In one affected sib pair, a shared homozygous region of 5.0 Mb was identified on chromosome 6, within the RP25 locus. One of the genes residing in this interval was the retina-expressed gene EGFL11. Several genes resembling EGFL11 were predicted just centromeric of EGFL11. Extensive long-range RT-PCR, combined with 5′- and 3′- RACE analysis, resulted in the identification of a 10-kb transcript, starting with the annotated exons of EGFL11 and spanning 44 exons and 2 Mb of genomic DNA. The transcript is predicted to encode a 3165-aa extracellular protein containing 28 EGF...
The retinal degenerative disease retinitis pigmentosa (RP) is a genetic disease that is the most com...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
3 pages, 2 figures, 1 table.-- PMID: 18836446 [PubMed].-- Supporting information (Suppl. Methods, Su...
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases tha...
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases tha...
Using a positional cloning approach supported by comparative genomics, we have identified a previous...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
The retinal degenerative disease retinitis pigmentosa (RP) is a genetic disease that is the most com...
The retinal degenerative disease retinitis pigmentosa (RP) is a genetic disease that is the most com...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed...
3 pages, 2 figures, 1 table.-- PMID: 18836446 [PubMed].-- Supporting information (Suppl. Methods, Su...
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases tha...
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases tha...
Using a positional cloning approach supported by comparative genomics, we have identified a previous...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal d...
The retinal degenerative disease retinitis pigmentosa (RP) is a genetic disease that is the most com...
The retinal degenerative disease retinitis pigmentosa (RP) is a genetic disease that is the most com...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...
The goal of this thesis is to algorithmically identify candidate modifiers for retinitis pigmentosa ...