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Volumn 16, Issue , 2010, Pages 2955-2963

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort

Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; GENOMIC DNA; SOLUTE CARRIER FAMILY 4 MEMBER 11 PROTEIN; UNCLASSIFIED DRUG;

EID: 79551703650     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (38)

References (17)
  • 1
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    • A morphological and functional study of congenital hereditary endothelial dystrophy
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    • Ehlers N, Módis L, Møller-Pedersen T. A morphological and functional study of congenital hereditary endothelial dystrophy. Acta Ophthalmol Scand 1998; 76:314-318. [PMID: 9686844]
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 314-318
    • Ehlers, N.1    Módis, L.2    Møller-Pedersen, T.3
  • 4
    • 0032877983 scopus 로고    scopus 로고
    • Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping
    • [PMID: 10512674]
    • Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Genomics 1999; 61:1-4. [PMID: 10512674]
    • (1999) Genomics , vol.61 , pp. 1-4
    • Hand, C.K.1    Harmon, D.L.2    Kennedy, S.M.3    Fitzsimon, J.S.4    Collum, L.M.T.5    Parfrey, N.A.6
  • 6
    • 8644251840 scopus 로고    scopus 로고
    • NaBC1 is a ubiquitous electrogenic Na+-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation
    • [PMID: 15525507]
    • Park M, Li Q, Shcheynikov N, Zeng W, Muallem S. NaBC1 is a ubiquitous electrogenic Na+-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation. Mol Cell 2004; 16:331-341. [PMID: 15525507]
    • (2004) Mol Cell , vol.16 , pp. 331-341
    • Park, M.1    Li, Q.2    Shcheynikov, N.3    Zeng, W.4    Muallem, S.5
  • 7
    • 34248332574 scopus 로고    scopus 로고
    • Borate transporter SLC4A11 mutations cause both Harboyan syndrome and nonsyndromic corneal endothelial dystrophy
    • [PMID: 17220209]
    • Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and nonsyndromic corneal endothelial dystrophy. J Med Genet 2007; 44:322-326. [PMID: 17220209]
    • (2007) J Med Genet , vol.44 , pp. 322-326
    • Desir, J.1    Moya, G.2    Reish, O.3    van Regemorter, N.4    Deconinck, H.5    David, K.L.6    Meire, F.M.7    Abramowicz, M.J.8
  • 8
    • 43549117524 scopus 로고    scopus 로고
    • Identification of Mutations in the SLC4A11 Gene in Patients with Recessive Congenital Hereditary Endothelial Dystrophy
    • [PMID: 18474783]
    • Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P. Identification of Mutations in the SLC4A11 Gene in Patients with Recessive Congenital Hereditary Endothelial Dystrophy. Arch Ophthalmol 2008; 126:700-708. [PMID: 18474783]
    • (2008) Arch Ophthalmol , vol.126 , pp. 700-708
    • Hemadevi, B.1    Veitia, R.A.2    Srinivasan, M.3    Arunkumar, J.4    Prajna, N.V.5    Lesaffre, C.6    Sundaresan, P.7
  • 9
    • 34547425743 scopus 로고    scopus 로고
    • Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy
    • [PMID: 17679935]
    • Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis 2007; 13:1327-1332. [PMID: 17679935]
    • (2007) Mol Vis , vol.13 , pp. 1327-1332
    • Sultana, A.1    Garg, P.2    Ramamurthy, B.3    Vemuganti, G.K.4    Kannabiran, C.5
  • 11
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
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    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215. [PMID: 3344216]
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 16
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    • The clinical spectrum of posterior polymorphous dystrophy
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    • Cibis GW, Krachmer JA, Phelps CD, Weingeist TA. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol 1977; 95:1529-1537. [PMID: 302697]
    • (1977) Arch Ophthalmol , vol.95 , pp. 1529-1537
    • Cibis, G.W.1    Krachmer, J.A.2    Phelps, C.D.3    Weingeist, T.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.