Citations for
1CDPD1, CHED2, FECD4, SLC4A11
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
Vilas GL, Morgan PE, Loganathan SK, Quon A, Casey JR.
Biochemistry 50(12):2157-69. Epub 2011 Feb 14. 2011
2CDPD1,SLC4A11
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ.
J Med Genet 44(5):322-6. Epub 2007 Jan 12. 2007
3CDPD1
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.
Abramowicz MJ, Albuquerque-Silva J, Zanen A.
J Med Genet 39(2):110-2. 2002