메뉴 건너뛰기




Volumn 116, Issue 6, 1998, Pages 793-797

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0031842677     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.116.6.793     Document Type: Article
Times cited : (46)

References (20)
  • 1
    • 0020955893 scopus 로고
    • The epidemiology of open-angle glaucoma: A review
    • Leske MC. The epidemiology of open-angle glaucoma: a review. Am J Epidemiol. 1983;118:166-191.
    • (1983) Am J Epidemiol , vol.118 , pp. 166-191
    • Leske, M.C.1
  • 2
    • 0027399771 scopus 로고
    • Open-angle glaucoma
    • Quigley HA. Open-angle glaucoma. N Engl J Med. 1993;328:1097-1106.
    • (1993) N Engl J Med , vol.328 , pp. 1097-1106
    • Quigley, H.A.1
  • 3
    • 0000756925 scopus 로고    scopus 로고
    • Epidemiology of chronic open-angle glaucoma
    • Ritch R, Shields M, Krupin T, eds. St Louis, Mo: Mosby-Year Book Inc
    • Wilson R, Martone J. Epidemiology of chronic open-angle glaucoma. In: Ritch R, Shields M, Krupin T, eds. The Glaucomas. Vol 2. St Louis, Mo: Mosby-Year Book Inc; 1996:753-768.
    • (1996) The Glaucomas , vol.2 , pp. 753-768
    • Wilson, R.1    Martone, J.2
  • 4
    • 0027173920 scopus 로고
    • Genetic linkage of familial open angle glaucoma to chromosome 1p21-q31
    • Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1p21-q31. Nat Genet. 1993;4:47-50.
    • (1993) Nat Genet , vol.4 , pp. 47-50
    • Sheffield, V.C.1    Stone, E.M.2    Alward, W.L.3
  • 5
    • 0029872337 scopus 로고    scopus 로고
    • Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1 q
    • Johnson AT, Richards JE, Bohenke M, et al. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1 q. Ophthalmology. 1996; 103:808-814.
    • (1996) Ophthalmology , vol.103 , pp. 808-814
    • Johnson, A.T.1    Richards, J.E.2    Bohenke, M.3
  • 6
    • 4243558625 scopus 로고
    • Fine mapping of juvenile primary open-angle glaucoma (POA6) on 1q21-31 and exclusion of adult POAG from the respective region
    • Seghatoleslami MR, Child A, Fossarello M, Crick RP, Sarfarazi M. Fine mapping of juvenile primary open-angle glaucoma (POA6) on 1q21-31 and exclusion of adult POAG from the respective region [abstract]. Am J Hunt Genet. 1994;55: A203.
    • (1994) Am J Hunt Genet , vol.55
    • Seghatoleslami, M.R.1    Child, A.2    Fossarello, M.3    Crick, R.P.4    Sarfarazi, M.5
  • 7
    • 0029003117 scopus 로고
    • A common gene for juvenile- And adult-onset primary open-angle glaucoma confined on chromosome 1q
    • Morrisette J, Cote G, Anctil JL, et al. A common gene for juvenile- and adult-onset primary open-angle glaucoma confined on chromosome 1q. Am J Hum Gertrt 1995;56:1431-1442.
    • (1995) Am J Hum Gertrt , vol.56 , pp. 1431-1442
    • Morrisette, J.1    Cote, G.2    Anctil, J.L.3
  • 8
    • 10544251845 scopus 로고    scopus 로고
    • Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1 q (GLC1A) in a French family
    • Meyer A, Bechetoille A, Valtot F, et al. Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1 q (GLC1A) in a French family. Hum Genet. 1996;98:567-571.
    • (1996) Hum Genet , vol.98 , pp. 567-571
    • Meyer, A.1    Bechetoille, A.2    Valtot, F.3
  • 9
    • 0030586892 scopus 로고    scopus 로고
    • Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
    • Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996;36:142-150.
    • (1996) Genomics , vol.36 , pp. 142-150
    • Stoilova, D.1    Child, A.2    Trifan, O.C.3    Crick, R.P.4    Coakes, R.L.5    Sarfarazi, M.6
  • 10
    • 0031036668 scopus 로고    scopus 로고
    • Mapping a gene for adult-onset glaucoma to chromosome 3q
    • Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset glaucoma to chromosome 3q. Am J Hum Genet. 1997;60:296-304.
    • (1997) Am J Hum Genet , vol.60 , pp. 296-304
    • Wirtz, M.K.1    Samples, J.R.2    Kramer, P.L.3
  • 11
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.M.3
  • 12
    • 0024388605 scopus 로고
    • Eicosanoid production and glucocorticoid regulatory mechanisms in cultured human trabecular mesnwork cells
    • Polansky JR, Kurtz RM, Alvarado JA, Weinreb RN, Mitchell MD. Eicosanoid production and glucocorticoid regulatory mechanisms in cultured human trabecular mesnwork cells. Prog Clin Biol Res. 1989;312:113-138.
    • (1989) Prog Clin Biol Res , vol.312 , pp. 113-138
    • Polansky, J.R.1    Kurtz, R.M.2    Alvarado, J.A.3    Weinreb, R.N.4    Mitchell, M.D.5
  • 13
    • 9844252339 scopus 로고    scopus 로고
    • Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
    • Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
    • (1997) Hum Mol Genet , vol.6 , pp. 2091-2097
    • Adam, M.F.1    Belmouden, A.2    Binisti, P.3
  • 16
    • 0021344005 scopus 로고
    • Easy calculations of lod scale and genetic risks on a small computer
    • Lathrop GM Lalouel JM. Easy calculations of lod scale and genetic risks on a small computer. Am J Hum Genet. 1984;36:460-465.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 17
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LC. A suggested nomenclature for designating mutations. Hum Mutat. 1993;2:245-248.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 18
    • 0028322166 scopus 로고
    • Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene
    • Danielson P, Forss-Petter S, Battenberg E, deLecea L, Bloom F, Sutcliffe J. Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene. J Neurosci Res. 1994;38:468-478.
    • (1994) J Neurosci Res , vol.38 , pp. 468-478
    • Danielson, P.1    Forss-Petter, S.2    Battenberg, E.3    DeLecea, L.4    Bloom, F.5    Sutcliffe, J.6
  • 19
    • 0030874913 scopus 로고    scopus 로고
    • Recent advances in molecular genetics ot glaucomas
    • Sarfarazi M. Recent advances in molecular genetics ot glaucomas. Hum Mol Genet. 1997;6:1667-1677.
    • (1997) Hum Mol Genet , vol.6 , pp. 1667-1677
    • Sarfarazi, M.1
  • 20
    • 17644433309 scopus 로고    scopus 로고
    • Cellular pharmacology and molecular hiology of the trabecular mesnwork inducible response gene product
    • Polansky JR, Fauss DJ, Chen P, et al. Cellular pharmacology and molecular hiology of the trabecular mesnwork inducible response gene product. Ophthalmotogica. 1997;211:126-139.
    • (1997) Ophthalmotogica , vol.211 , pp. 126-139
    • Polansky, J.R.1    Fauss, D.J.2    Chen, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.