| 1 | CHED2, SLC4A11
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| A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy.
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| Park SH, Jeong HJ, Kim M, Kim MS.
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| Cornea 32(7):e181-2. doi: 10.1097/ICO.0b013e31828d9ffd. No abstract available.
2013
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| 2 | CHED2, FECD4, SLC4A11
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| Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
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| Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J.
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| Hum Mutat 33(2):419-28. doi: 10.1002/humu.21655. Epub 2011 Dec 20.
2012
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| 3 | CDPD1, CHED2, FECD4, SLC4A11
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| A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
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| Vilas GL, Morgan PE, Loganathan SK, Quon A, Casey JR.
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| Biochemistry 50(12):2157-69. Epub 2011 Feb 14.
2011
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| 4 | CHED2, SLC4A11
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| Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
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| Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P.
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| Arch Ophthalmol 126(5):700-8.PMID: 18474783 2008
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| 5 | SLC4A11, CHED2
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| Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
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| Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.
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| Nat Genet 38(7):755-7. Epub 2006 Jun 11. 2006
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| 6 | CHED1, CHED2
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| Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.
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| Hand CK, et al.
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| Genomics 61(1):1-4 1999
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