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Volumn 65, Issue 2, 1999, Pages 571-574

Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) kinked to chromosome 6q in a family of pakistani origin [6]

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6Q; CONTROLLED STUDY; GENE LOCUS; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; LETTER; MARKER GENE; PAKISTAN; PEDIGREE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0033365206     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302493     Document Type: Letter
Times cited : (24)

References (18)
  • 1
    • 17144456542 scopus 로고    scopus 로고
    • “TULIP1” mutation in two recessive extended Dominican kindreds with autosomal recessive retinitis pigmentosa
    • P Banerjee PW Kleyn JA Knowles CA Lewis BM Ross E Parano SG Kovats “TULIP1” mutation in two recessive extended Dominican kindreds with autosomal recessive retinitis pigmentosa Nat Genet 18 1998 177 179
    • (1998) Nat Genet , vol.18 , pp. 177-179
    • Banerjee, P1    Kleyn, PW2    Knowles, JA3    Lewis, CA4    Ross, BM5    Parano, E6    Kovats, SG7
  • 3
    • 0029035306 scopus 로고
    • Retinal photoreceptor dystrophies
    • AC Bird Retinal photoreceptor dystrophies Am J Ophthalmol 119 1995 543 562
    • (1995) Am J Ophthalmol , vol.119 , pp. 543-562
    • Bird, AC1
  • 4
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • C Dib S Faure C Fizames D Samson N Drouot A Vignal P Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C1    Faure, S2    Fizames, C3    Samson, D4    Drouot, N5    Vignal, A6    Millasseau, P7
  • 5
    • 0028820045 scopus 로고
    • Mutations in the encoding the a subunit of rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • TP Dryja TJ Finn Y-W Peng TL McGee EL Berson K-W Yau Mutations in the encoding the a subunit of 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, TP1    Finn, TJ2    Peng, Y-W3    McGee, TL4    Berson, EL5    Yau, K-W6
  • 6
    • 0032521129 scopus 로고    scopus 로고
    • Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3
    • U Finckh S Xu G Kumaramanickavel M Schürmann JK Mukkadan T Fernandez S John Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3 Genomics 48 1998 341 345
    • (1998) Genomics , vol.48 , pp. 341-345
    • Finckh, U1    Xu, S2    Kumaramanickavel, G3    Schürmann, M4    Mukkadan, JK5    Fernandez, T6    John, S7
  • 8
    • 0031942582 scopus 로고    scopus 로고
    • Recessive mutations in the gene encoding the tubby-like protein TULIP1 in patients with retinitis pigmentosa
    • SA Hagstrom MA North PM Nishina EL Berson TP Dryja Recessive mutations in the gene encoding the tubby-like protein TULIP1 in patients with retinitis pigmentosa Nat Genet 18 1998 174 176
    • (1998) Nat Genet , vol.18 , pp. 174-176
    • Hagstrom, SA1    North, MA2    Nishina, PM3    Berson, EL4    Dryja, TP5
  • 9
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase
    • SH Huang SJ Pittler X Huang L Oliveira EL Berson TP Dryja Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase Nat Genet 11 1995 468 471
    • (1995) Nat Genet , vol.11 , pp. 468-471
    • Huang, SH1    Pittler, SJ2    Huang, X3    Oliveira, L4    Berson, EL5    Dryja, TP6
  • 10
    • 0019971687 scopus 로고
    • On the heredity of retinitis pigmentosa
    • M Jay On the heredity of retinitis pigmentosa Br J Ophthalmol 66 1982 405 416
    • (1982) Br J Ophthalmol , vol.66 , pp. 405-416
    • Jay, M1
  • 11
    • 0028917492 scopus 로고
    • Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan
    • J Leutelt R Oehlmann F Younus LI van den Born JL Weber MJ Denton SQ Mehdi Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan Clin Genet 47 1995 122 124
    • (1995) Clin Genet , vol.47 , pp. 122-124
    • Leutelt, J1    Oehlmann, R2    Younus, F3    van den Born, LI4    Weber, JL5    Denton, MJ6    Mehdi, SQ7
  • 13
    • 84984763750 scopus 로고    scopus 로고
    • Mutations in the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
    • MA Maw B Kennedy A Knight R Bridges KE Roth EJ Mani JK Mukkadan Mutations in the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa Nat Genet 17 1997 198 200
    • (1997) Nat Genet , vol.17 , pp. 198-200
    • Maw, MA1    Kennedy, B2    Knight, A3    Bridges, R4    Roth, KE5    Mani, EJ6    Mukkadan, JK7
  • 14
    • 0028939390 scopus 로고
    • Mutation spectrum of the gene encoding the b subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    • ME McLaughlin TL Ehrhart EL Berson TP Dryja Mutation spectrum of the gene encoding the b 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, ME1    Ehrhart, TL2    Berson, EL3    Dryja, TP4
  • 15
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis-pigmentosa
    • P Rosenfeld G Cowley T McGee M Sandberg E Berson T Dryja A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis-pigmentosa Nat Genet 1 1992 209 213
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P1    Cowley, G2    McGee, T3    Sandberg, M4    Berson, E5    Dryja, T6
  • 16
    • 0031748893 scopus 로고    scopus 로고
    • A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
    • A Ruiz S Borrego I Marcos G Antiñolo A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters Am J Hum Genet 62 1998 1452 1459
    • (1998) Am J Hum Genet , vol.62 , pp. 1452-1459
    • Ruiz, A1    Borrego, S2    Marcos, I3    Antiñolo, G4
  • 17
    • 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
    • S van Soest LI van den Born A Gal GJ Farrar LM Bleeker-Wagemakers A Westerveld P Humphries 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, S1    van den Born, LI2    Gal, A3    Farrar, GJ4    Bleeker-Wagemakers, LM5    Westerveld, A6    Humphries, P7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.