메뉴 건너뛰기




Volumn 35, Issue 4, 2014, Pages 252-254

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA

Author keywords

[No Author keywords available]

Indexed keywords

KERATOCAN; KERA PROTEIN, HUMAN; PROTEOGLYCAN; STOP CODON;

EID: 84902311508     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.811272     Document Type: Letter
Times cited : (8)

References (9)
  • 1
    • 0029942356 scopus 로고    scopus 로고
    • Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12
    • Tahvanainen E, Villanueva AS, Forsius H, et al. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res 1996;6:249-254
    • (1996) Genome Res , vol.6 , pp. 249-254
    • Tahvanainen, E.1    Villanueva, A.S.2    Forsius, H.3
  • 2
    • 0034117963 scopus 로고    scopus 로고
    • Mutations in KERA, encoding keratocan, cause cornea plana
    • Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000;25:91-95
    • (2000) Nat Genet , vol.25 , pp. 91-95
    • Pellegata, N.S.1    Dieguez-Lucena, J.L.2    Joensuu, T.3
  • 4
    • 70350663008 scopus 로고    scopus 로고
    • Corneal decompensation in recessive cornea plana
    • Khan AO, Aldahmesh MA, Al-Gehedan S, et al. Corneal decompensation in recessive cornea plana. Ophthalmic Genet 2009;30:142-145
    • (2009) Ophthalmic Genet , vol.30 , pp. 142-145
    • Khan, A.O.1    Ma, A.2    Al-Gehedan, S.3
  • 5
    • 34547578467 scopus 로고    scopus 로고
    • Study of p.N247S KERA mutation in a British family with cornea plana
    • Liskova P, Hysi PG, Williams D, et al. Study of p.N247S KERA mutation in a British family with cornea plana. Mol Vis 2007;13:1339-1347
    • (2007) Mol Vis , vol.13 , pp. 1339-1347
    • Liskova, P.1    Hysi, P.G.2    Williams, D.3
  • 6
    • 16344365097 scopus 로고    scopus 로고
    • Corneal endothelial cell density decreases with age in emmetropic eyes
    • Sanchis-Gimeno JA, Lleo-Perez A, Alonso L, et al. Corneal endothelial cell density decreases with age in emmetropic eyes. Histol Histopathol 2005;20:423-427
    • (2005) Histol Histopathol , vol.20 , pp. 423-427
    • Sanchis-Gimeno, J.A.1    Lleo-Perez, A.2    Alonso, L.3
  • 7
    • 79952764520 scopus 로고    scopus 로고
    • Performance of mutation pathogenicity prediction methods on missense variants
    • Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 2011;32:358-368
    • (2011) Hum Mutat , vol.32 , pp. 358-368
    • Thusberg, J.1    Olatubosun, A.2    Vihinen, M.3
  • 8
    • 84989995734 scopus 로고
    • Studien uber Cornea plana congenita bei 19 Kranken in 9 Familien
    • Forsius H. Studien uber Cornea plana congenita bei 19 Kranken in 9 Familien. Acta Ophthalmol (Copenh) 1961;39: 203-221
    • (1961) Acta Ophthalmol (Copenh) , vol.39 , pp. 203-221
    • Forsius, H.1
  • 9
    • 0033006788 scopus 로고    scopus 로고
    • Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy
    • Chiou AG, Kaufman SC, Beuerman RW, et al. Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. Br J Ophthalmol 1999;83:185-189.
    • (1999) Br J Ophthalmol , vol.83 , pp. 185-189
    • Chiou, A.G.1    Kaufman, S.C.2    Beuerman, R.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.