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Volumn 5, Issue 6, 1996, Pages 827-833

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

EID: 15844362841     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.6.827     Document Type: Article
Times cited : (40)

References (40)
  • 2
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase
    • Huang,S.H., Pittler,S.J., Huang,X.H., Oliveira,L., Berson,E.L. and Dryja,T.P. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase. Nature Genet., 11, 468-171.
    • (1995) Nature Genet. , vol.11 , pp. 468-1171
    • Huang, S.H.1    Pittler, S.J.2    Huang, X.H.3    Oliveira, L.4    Berson, E.L.5    Dryja, T.P.6
  • 3
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the b-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin,M.E., Sandberg,M.A., Berson,E.L. and Dryja,T.P. (1993) Recessive mutations in the gene encoding the b-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet., 4, 130-134.
    • (1993) Nature Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 5
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/rds and ROM 1 loci
    • Kajiwara,K., Berson,E.L. and Dryja,T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/rds and ROM 1 loci. Science, 264, 1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 6
    • 0019971687 scopus 로고
    • On the heredity of retinitis pigmentosa
    • Jay,M. (1982) On the heredity of retinitis pigmentosa. Br. J. Ophthalmol., 66, 405-116.
    • (1982) Br. J. Ophthalmol. , vol.66 , pp. 405-1116
    • Jay, M.1
  • 7
    • 0027234560 scopus 로고
    • Retinitis pigmentosa: Problems associated with genetic classification
    • Haim,M. (1993) Retinitis pigmentosa: problems associated with genetic classification. Clin. Genet., 44, 62-70.
    • (1993) Clin. Genet. , vol.44 , pp. 62-70
    • Haim, M.1
  • 13
    • 0023687829 scopus 로고
    • Xp21 DNA microdeletion in a patient with chronic granulomalous disease, retinitis pigmentosa, and McLeod phenotype
    • de Saint-Basile,G., Bohler,M.C., Fischer,A., Cartron,J., Dufier,J.L., Griscelli,C. and Orkin,S.H. (1988) Xp21 DNA microdeletion in a patient with chronic granulomalous disease, retinitis pigmentosa, and McLeod phenotype. Hum. Genet., 80, 85-89.
    • (1988) Hum. Genet. , vol.80 , pp. 85-89
    • De Saint-Basile, G.1    Bohler, M.C.2    Fischer, A.3    Cartron, J.4    Dufier, J.L.5    Griscelli, C.6    Orkin, S.H.7
  • 17
    • 0027468779 scopus 로고
    • Cloning the differences between two complex genomes
    • Lisitsyn,N., Wigler,M. (1993) Cloning the differences between two complex genomes. Science, 259, 946-951.
    • (1993) Science , vol.259 , pp. 946-951
    • Lisitsyn, N.1    Wigler, M.2
  • 18
  • 20
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • Collins,F.S. (1995) Positional cloning moves from perditional to traditional. Nature Genet., 9, 347-350.
    • (1995) Nature Genet. , vol.9 , pp. 347-350
    • Collins, F.S.1
  • 21
    • 0025279071 scopus 로고
    • Rapid isolation of human chromosome-specific DNA probes from a somatic cell hybrid
    • Cotter,F.E., Hampton,G.M., Nasipuri,S., Bodmer,W.F. and Young,B.D. (1990) Rapid isolation of human chromosome-specific DNA probes from a somatic cell hybrid. Genomics, 7, 257-263.
    • (1990) Genomics , vol.7 , pp. 257-263
    • Cotter, F.E.1    Hampton, G.M.2    Nasipuri, S.3    Bodmer, W.F.4    Young, B.D.5
  • 22
    • 0025334285 scopus 로고
    • Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction
    • Ledbetter,S.A., Nelson,D.L., Warren,S.T. and Ledbetter,D.H. (1990) Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics, 6, 475-481.
    • (1990) Genomics , vol.6 , pp. 475-481
    • Ledbetter, S.A.1    Nelson, D.L.2    Warren, S.T.3    Ledbetter, D.H.4
  • 24
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield,V.C., Beck,J.S., Kwitek,A.E., Sandstrom,D.W. and Stone,E.M. (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16, 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 25
    • 0027275266 scopus 로고
    • Cytoplasmic regulation of mRNA function: The importance of the 3′ untranslated region
    • Jackson,R.J. (1993) Cytoplasmic regulation of mRNA function: the importance of the 3′ untranslated region. Cell, 74, 9-14.
    • (1993) Cell , vol.74 , pp. 9-14
    • Jackson, R.J.1
  • 26
    • 0028210480 scopus 로고
    • Position effect variegation and the new biology of heterochromatin
    • Karpen,G.H. (1994) Position effect variegation and the new biology of heterochromatin. Curr. Opin. Genet. & Dev., 4, 281-291.
    • (1994) Curr. Opin. Genet. & Dev. , vol.4 , pp. 281-291
    • Karpen, G.H.1
  • 27
    • 0025016822 scopus 로고
    • Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
    • Green,E.D., Olson,M.V. (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl Acad. Sci. USA, 87, 1213-1217.
    • (1990) Proc. Natl Acad. Sci. USA , vol.87 , pp. 1213-1217
    • Green, E.D.1    Olson, M.V.2
  • 29
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg,A.R., Vogelstein,B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.
    • (1983) Anal. Biochem. , vol.132 , pp. 6-13
    • Feinberg, A.R.1    Vogelstein, B.2
  • 30
    • 0021381028 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg,A.P., Vogelstein,B. (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendun. Anal. Biochem., 137, 266-267.
    • (1984) Addendun. Anal. Biochem. , vol.137 , pp. 266-267
    • Feinberg, A.P.1    Vogelstein, B.2
  • 33
    • 0027345964 scopus 로고
    • Cosmid sequencing
    • Craxton,M. (1993) Cosmid sequencing. Methods Mol. Biol., 23, 149-167.
    • (1993) Methods Mol. Biol. , vol.23 , pp. 149-167
    • Craxton, M.1
  • 34
    • 0025776579 scopus 로고
    • A sequence assembly and editing program for efficient management of large projects
    • Dear,S., Staden,R. (1991) A sequence assembly and editing program for efficient management of large projects. Nucleic Acids Res., 19, 3907-3911.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 3907-3911
    • Dear, S.1    Staden, R.2
  • 36
    • 0023989064 scopus 로고
    • Improved tools for biological sequence comparison
    • Pearson,W.R., Lipman,D.J. (1988) Improved tools for biological sequence comparison. Proc. Natl Acad. Sci. USA, 85, 2444-2448.
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 2444-2448
    • Pearson, W.R.1    Lipman, D.J.2
  • 37
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
    • Uberbacher,E.C., Mural,R.J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl Acad. Sci. USA, 88, 11261-11265.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.C.1    Mural, R.J.2
  • 38
    • 77957187566 scopus 로고
    • A probabilistic model for detecting coding regions in DNA sequences
    • Thomas,A., Skolnick,M.H. (1994) A probabilistic model for detecting coding regions in DNA sequences. IMA J. Math. Appl. Med. Biol., 11, 149-60:
    • (1994) IMA J. Math. Appl. Med. Biol. , vol.11 , pp. 149-160
    • Thomas, A.1    Skolnick, M.H.2
  • 39
    • 0028304908 scopus 로고
    • On global sequence alignment
    • Huang,X. (1994) On global sequence alignment. Comput. Appl. Biosci., 10, 227-235.
    • (1994) Comput. Appl. Biosci. , vol.10 , pp. 227-235
    • Huang, X.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.