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Volumn 15, Issue , 2009, Pages 1781-1787

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India

Author keywords

[No Author keywords available]

Indexed keywords

ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; ASPARTIC ACID; CONE ROD HOMEOBOX PROTEIN; CRUMBS HOMOLOG 1 PROTEIN; GENE PRODUCT; GUANYLATE CYCLASE 2D; HISTIDINE; NEPHRONOPHTHISIS 6; RETINAL PIGMENT EPITHELIUM SPECIFIC PROTEIN 65 KDA; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR INTERACTING PROTEIN 1; RETINOL DEHYDROGENASE 12; TYROSINE; UNCLASSIFIED DRUG;

EID: 70149121705     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (25)
  • 6
    • 34347344977 scopus 로고    scopus 로고
    • den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007; 39:889-95.
    • den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007; 39:889-95.
  • 7
    • 34147185835 scopus 로고    scopus 로고
    • Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
    • Sweeney MO, McGee TL, Berson EL, Dryja TP. Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Mol Vis 2007; 13:588-93.
    • (2007) Mol Vis , vol.13 , pp. 588-593
    • Sweeney, M.O.1    McGee, T.L.2    Berson, E.L.3    Dryja, T.P.4
  • 18
    • 36248964755 scopus 로고    scopus 로고
    • Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
    • Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144:791-811.
    • (2007) Am J Ophthalmol , vol.144 , pp. 791-811
    • Stone, E.M.1
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.