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Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
Hum Mutat. 2018 May;39(5):676-690. doi: 10.1002/humu.23401. Epub 2018 Feb 2.
Hum Mutat. 2018.
PMID: 29327391
Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P.
Hemadevi B, et al.
Arch Ophthalmol. 2008 May;126(5):700-8. doi: 10.1001/archopht.126.5.700.
Arch Ophthalmol. 2008.
PMID: 18474783
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Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, Hejtmancik JF, Kannabiran C.
Jiao X, et al.
J Med Genet. 2007 Jan;44(1):64-8. doi: 10.1136/jmg.2006.044644. Epub 2006 Jul 6.
J Med Genet. 2007.
PMID: 16825429
Free PMC article.
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