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Volumn 351, Issue 9109, 1998, Pages 1103-1104

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; SYNAPSIN I;

EID: 0040386021     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)79384-3     Document Type: Article
Times cited : (72)

References (5)
  • 1
    • 0031004576 scopus 로고    scopus 로고
    • Molecular characteristion of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
    • 1 North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM. Molecular characteristion of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci USA 1997; 94: 3128-33.
    • (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
  • 3
    • 0028017387 scopus 로고
    • Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
    • 3 Knowles AJ, Shugart YY, Banerjee P, et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Molec Genet 1994; 3: 1401-03.
    • (1994) Hum Molec Genet , vol.3 , pp. 1401-1403
    • Knowles, A.J.1    Shugart, Y.Y.2    Banerjee, P.3
  • 4
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • 4 Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90: 41-54.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 5
    • 0030227604 scopus 로고    scopus 로고
    • Inherited retinal degeneration: Exceptional genetic and clinical heterogeneity
    • 5 Sullivan LS, Daiger SP. Inherited retinal degeneration: exceptional genetic and clinical heterogeneity. Molec Med Today 1996; 2: 380-86.
    • (1996) Molec Med Today , vol.2 , pp. 380-386
    • Sullivan, L.S.1    Daiger, S.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.