| 1 | 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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| 2 | CDPD1,SLC4A11
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| Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
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| Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ.
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| J Med Genet 44(5):322-6. Epub 2007 Jan 12. 2007
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| 3 | CDPD1
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| Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.
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| Abramowicz MJ, Albuquerque-Silva J, Zanen A.
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| J Med Genet 39(2):110-2. 2002
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