SLC4A11
بیشتر بخوانید

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Callaghan M, Hand CK, Kennedy SM,  et al. (1999). "Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct". The British journal of ophthalmology. 83 (1): 115–9. doi:10.1136/bjo.83.1.115. PMC 1722772. PMID 10209448.
Hand CK, Harmon DL, Kennedy SM,  et al. (1999). "Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping". Genomics. 61 (1): 1–4. doi:10.1006/geno.1999.5920. PMID 10512674.
Deloukas P, Matthews LH, Ashurst J,  et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Strausberg RL, Feingold EA, Grouse LH,  et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Moroi SE, Gokhale PA, Schteingart MT,  et al. (2003). "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. Ophthalmol. 135 (4): 461–70. doi:10.1016/S0002-9394(02)02032-9. PMID 12654361.
Ota T, Suzuki Y, Nishikawa T,  et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Park M, Li Q, Shcheynikov N,  et al. (2004). "NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation". Mol. Cell. 16 (3): 331–41. doi:10.1016/j.molcel.2004.09.030. PMID 15525507.
Jiao X, Sultana A, Garg P,  et al. (2007). "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11". J. Med. Genet. 44 (1): 64–8. doi:10.1136/jmg.2006.044644. PMC 2597914. PMID 16825429.
Desir J, Moya G, Reish O,  et al. (2007). "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy". J. Med. Genet. 44 (5): 322–6. doi:10.1136/jmg.2006.046904. PMC 2597979. PMID 17220209.
Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS (2007). "Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11". Mol. Vis. 13: 39–46. PMC 2503190. PMID 17262014.
Ramprasad VL, Ebenezer ND, Aung T,  et al. (2007). "Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online". Hum. Mutat. 28 (5): 522–3. doi:10.1002/humu.9487. PMID 17397048.
Aldave AJ, Yellore VS, Bourla N,  et al. (2007). "Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11". Cornea. 26 (7): 896–900. doi:10.1097/ICO.0b013e318074bb01. PMID 17667634.
Sultana A, Garg P, Ramamurthy B,  et al. (2007). "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis. 13: 1327–32. PMID 17679935.