Associated Papers
Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.
Liskova P et al.
Ophthalmic Research, 2015
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Vithana EN et al.
Nature Genetics, 2006
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