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Volumn 664, Issue , 2010, Pages 255-262

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN PRPF31; PROTEIN RLBP1; UNCLASSIFIED DRUG;

EID: 79952167083     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-1399-9_29     Document Type: Conference Paper
Times cited : (16)

References (14)
  • 1
    • 33645808262 scopus 로고    scopus 로고
    • A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease
    • Abu-Safieh L, Vithana EN, Mantel I et al (2006) A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease. Mol Vis 12:384-388
    • (2006) Mol Vis , vol.12 , pp. 384-388
    • Abu-Safieh, L.1    Vithana, E.N.2    Mantel, I.3
  • 7
    • 0036500141 scopus 로고    scopus 로고
    • Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
    • DOI 10.1093/emboj/21.5.1148
    • Makarova OV, Makarov EM, Liu S et al (2002) Protein 61 K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J 21:1148-1157 (Pubitemid 34206188)
    • (2002) EMBO Journal , vol.21 , Issue.5 , pp. 1148-1157
    • Makarova, O.V.1    Makarov, E.M.2    Liu, S.3    Vornlocher, H.-P.4    Luhrmann, R.5
  • 9
    • 0030810721 scopus 로고    scopus 로고
    • Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays
    • Pastinen T, Kurg A, Metspalu A et al (1997) Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res 7:606-614 (Pubitemid 27313609)
    • (1997) Genome Research , vol.7 , Issue.6 , pp. 606-614
    • Pastinen, T.1    Kurg, A.2    Metspalu, A.3    Peltonen, L.4    Syvanen, A.-C.5
  • 11
    • 24044481705 scopus 로고    scopus 로고
    • Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa
    • DOI 10.1016/j.ajo.2005.02.050, PII S0002939405002734
    • Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M (2005) Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 140:537-540 (Pubitemid 41224854)
    • (2005) American Journal of Ophthalmology , vol.140 , Issue.3 , pp. 537-540
    • Sato, H.1    Wada, Y.2    Itabashi, T.3    Nakamura, M.4    Kawamura, M.5    Tamai, M.6
  • 14
    • 19944432817 scopus 로고    scopus 로고
    • Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
    • Yang Z, Alvarez BV, Chakarova C et al (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet 14:255-265
    • (2005) Hum Mol Genet , vol.14 , pp. 255-265
    • Yang, Z.1    Alvarez, B.V.2    Chakarova, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.