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Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
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Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
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Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
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Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.
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X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
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Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
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Localization of CHMP2B in postnatal mouse retina.
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Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
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Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.
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Molecular basis for photoreceptor outer segment architecture.
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SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
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Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.
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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
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本文引用的文献
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Perspective on genes and mutations causing retinitis pigmentosa.
Arch Ophthalmol. 2007 Feb;125(2):151-8. doi: 10.1001/archopht.125.2.151.
2
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440.
3
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64. doi: 10.1167/iovs.05-1443.
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SIFT: Predicting amino acid changes that affect protein function.
Nucleic Acids Res. 2003 Jul 1;31(13):3812-4. doi: 10.1093/nar/gkg509.
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Human non-synonymous SNPs: server and survey.
Nucleic Acids Res. 2002 Sep 1;30(17):3894-900. doi: 10.1093/nar/gkf493.
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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.
Nucleic Acids Res. 2002 Jun 15;30(12):e57. doi: 10.1093/nar/gnf056.
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Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
J Med Genet. 2002 Apr;39(4):284-5. doi: 10.1136/jmg.39.4.284.
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Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.
Am J Ophthalmol. 2001 Nov;132(5):693-9. doi: 10.1016/s0002-9394(01)01179-5.
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Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
Am J Hum Genet. 2000 Oct;67(4):1000-3. doi: 10.1086/303091. Epub 2000 Sep 1.
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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Nat Genet. 2000 Aug;25(4):462-6. doi: 10.1038/78182.
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