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Volumn 48, Issue 2, 1998, Pages 171-177

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3

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Indexed keywords

CONTIG;

EID: 0032033756     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5174     Document Type: Article
Times cited : (3)

References (20)
  • 4
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja T. P., Li T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4:1995;1739-1743.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 5
    • 0028820045 scopus 로고
    • Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja T. P., Finn J. T., Peng Y. W., McGee T. L., Berson E. L., Yau K. W. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 92:1995;10177-10181.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 10177-10181
    • Dryja, T.P.1    Finn, J.T.2    Peng, Y.W.3    McGee, T.L.4    Berson, E.L.5    Yau, K.W.6
  • 7
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K., Berson E. L., Dryja T. P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 264:1994;1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 9
    • 0028017387 scopus 로고
    • Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
    • Knowles J. A., Shugart Y. Y., Banerjee P., Gilliam T. C., Lewis C. A., Jacobson S. G., Ott J. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Mol. Genet. 3:1994;1401-1403.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1401-1403
    • Knowles, J.A.1    Shugart, Y.Y.2    Banerjee, P.3    Gilliam, T.C.4    Lewis, C.A.5    Jacobson, S.G.6    Ott, J.7
  • 13
    • 0027270053 scopus 로고
    • Recessive mutations in the gene coding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin M. E., Sandberg M. A., Berson E. L., Dryja T. P. Recessive mutations in the gene coding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4:1993;130-134.
    • (1993) Nat. Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 14
    • 0028939390 scopus 로고
    • Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    • McLaughlin M. E., Ehrhart T. L., Berson E. L., Dryja T. P. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 92:1995;3249-3253.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 3249-3253
    • McLaughlin, M.E.1    Ehrhart, T.L.2    Berson, E.L.3    Dryja, T.P.4
  • 15
    • 0031004576 scopus 로고    scopus 로고
    • Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
    • North M. A., Naggert J. K., Yan Y., Noben-Trauth K., Nishina P. M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc. Natl. Acad. Sci. USA. 94:1997;3128-3133.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 3128-3133
    • North, M.A.1    Naggert, J.K.2    Yan, Y.3    Noben-Trauth, K.4    Nishina, P.M.5
  • 17
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld P. J., Cowley G. S., McGee T. L., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 1:1992;209-212.
    • (1992) Nat. Genet. , vol.1 , pp. 209-212
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 20
    • 0027933727 scopus 로고
    • Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population
    • van Soest S., van den Born L. I., Gal A., Farrar G. J., Bleeker-Wagemakers L. M., Westerveld A., Humphries P. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics. 22:1994;499-504.
    • (1994) Genomics , vol.22 , pp. 499-504
    • Van Soest, S.1    Van Den Born, L.I.2    Gal, A.3    Farrar, G.J.4    Bleeker-Wagemakers, L.M.5    Westerveld, A.6    Humphries, P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.