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Volumn 21, Issue 2, 2000, Pages 123-128

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

Author keywords

2314delG mutation; USH2A gene mutations; Usher syndrome type II

Indexed keywords

DNA; SCLEROPROTEIN;

EID: 0033870206     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200006)21:2;1-8;ft123     Document Type: Article
Times cited : (16)

References (19)
  • 5
    • 0025323589 scopus 로고
    • Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q
    • Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 1990;7:250-256.
    • (1990) Genomics , vol.7 , pp. 250-256
    • Lewis, R.A.1    Otterud, B.2    Stauffer, D.3    Lalouel, J.M.4    Leppert, M.5
  • 9
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    • Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998;280:1753-1757.
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3    Hoover, D.M.4    Rehm, H.L.5    Ma-Edmonds, M.6
  • 10
    • 0033358594 scopus 로고    scopus 로고
    • A mutation in the Usher syndrome type IIA gene: High prevalence and phenotypic variation
    • Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, et al. A mutation in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999;64:1221-1225.
    • (1999) Am J Hum Genet , vol.64 , pp. 1221-1225
    • Liu, X.Z.1    Hope, C.2    Liang, C.Y.3    Zou, J.M.4    Xu, L.R.5    Cole, T.6
  • 13
    • 0030201074 scopus 로고    scopus 로고
    • The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41
    • Sumegi J, Wang J-Y, Zhen D-K, Eudy JD, Talmadge CB, Li B-F, et al. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. Genomics 1996;35:79-86.
    • (1996) Genomics , vol.35 , pp. 79-86
    • Sumegi, J.1    Wang, J.-Y.2    Zhen, D.-K.3    Eudy, J.D.4    Talmadge, C.B.5    Li, B.-F.6
  • 14
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombinations
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombinations. Am J Hum Genet 1985;37:482-498.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 17
    • 0031879888 scopus 로고    scopus 로고
    • Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-1b Usher syndrome
    • Espinós C, Millán JM, Sanchez F, Beneyto M, Nájera C. Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-1b Usher syndrome. Hum Genet 1998;102:691-694.
    • (1998) Hum Genet , vol.102 , pp. 691-694
    • Espinós, C.1    Millán, J.M.2    Sanchez, F.3    Beneyto, M.4    Nájera, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.