메뉴 건너뛰기




Volumn 97, Issue 6, 1996, Pages 798-801

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; LEBER CONGENITAL AMAUROSIS; MALE; MARKER GENE; PRIORITY JOURNAL;

EID: 0029920667     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02346192     Document Type: Article
Times cited : (49)

References (21)
  • 5
    • 84940140093 scopus 로고
    • L'importance diagnostique de l'ecute;lectrorétinogramme dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie
    • Franceschetti A, Dieterle P (1954) L'importance diagnostique de l'ecute;lectrorétinogramme dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Conf Neurol 14:184-186
    • (1954) Conf Neurol , vol.14 , pp. 184-186
    • Franceschetti, A.1    Dieterle, P.2
  • 6
    • 84924637901 scopus 로고
    • Dégénérescence tapéto-rétinienne (type Leber) avec aspect marbré du fond de l'oeil périphérique
    • Franceschetti A, Forni S (1958) Dégénérescence tapéto-rétinienne (type Leber) avec aspect marbré du fond de l'oeil périphérique. Ophthalmologica 135:610-616
    • (1958) Ophthalmologica , vol.135 , pp. 610-616
    • Franceschetti, A.1    Forni, S.2
  • 8
    • 0011530182 scopus 로고
    • Inbreeding in mendelian populations with special reference to human cousin marriage
    • Haldane JBS, Moshinsky P (1939) Inbreeding in mendelian populations with special reference to human cousin marriage. Ann Eugenics 9:321-340
    • (1939) Ann Eugenics , vol.9 , pp. 321-340
    • Haldane, J.B.S.1    Moshinsky, P.2
  • 10
    • 0014236348 scopus 로고
    • Keratoconus in congenital diffuse tapetoretinal degeneration
    • Karel I (1968) Keratoconus in congenital diffuse tapetoretinal degeneration. Ophthalmologica 155:8-15
    • (1968) Ophthalmologica , vol.155 , pp. 8-15
    • Karel, I.1
  • 11
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 13
    • 0001871537 scopus 로고
    • Über retinitis pigmentosa und angeborene amaurose
    • Leber T (1869) Über retinitis pigmentosa und angeborene amaurose. Graefes Arch Klin Exp Ophthalmol 15:13-20
    • (1869) Graefes Arch Klin Exp Ophthalmol , vol.15 , pp. 13-20
    • Leber, T.1
  • 15
    • 77049298733 scopus 로고
    • The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type
    • Morton NE (1956) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 8:80-96
    • (1956) Am J Hum Genet , vol.8 , pp. 80-96
    • Morton, N.E.1
  • 16
    • 0021064786 scopus 로고
    • Linkage analysis and family classification under heterogeneity
    • Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320
    • (1983) Ann Hum Genet , vol.47 , pp. 311-320
    • Ott, J.1
  • 17
    • 0028607407 scopus 로고
    • Recent advances in the gene map of inherited eye disorders: Primary hereditary diseases of the retina, choroid, and vitreous
    • Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP (1994) Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet 31:901-915
    • (1994) J Med Genet , vol.31 , pp. 901-915
    • Rosenfeld, P.J.1    McKusick, V.A.2    Amberger, J.S.3    Dryja, T.P.4
  • 18
    • 0002722479 scopus 로고
    • Genetic heterogeneity
    • The Johns Hopkins University Press, Baltimore and London
    • Terwilliger JD, Ott J (1994) Genetic heterogeneity. Handbook of human genetic linkage. The Johns Hopkins University Press, Baltimore and London, pp 235-242
    • (1994) Handbook of Human Genetic Linkage , pp. 235-242
    • Terwilliger, J.D.1    Ott, J.2
  • 19
    • 0002360225 scopus 로고
    • On various recessive biotypes of Leber's congenital amaurosis
    • Copenh
    • Waardenburg PJ, Schappert-Kimmijser J (1963) On various recessive biotypes of Leber's congenital amaurosis. Acta Ophthalmol (Copenh) 41:317-320
    • (1963) Acta Ophthalmol , vol.41 , pp. 317-320
    • Waardenburg, P.J.1    Schappert-Kimmijser, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.