| 1 | CORD5, CORD6, GUCY2D, LCA1
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| Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
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| Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW.
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| Front Mol Neurosci. Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. 2018
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| 2 | LCA1, RETGC1
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| Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
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| Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM.
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| Hum Mol Genet 22(1):168-83. doi: 10.1093/hmg/dds421. Epub 2012 Oct 3.
2013
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| 3 | GUCY2D, LCA1
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| Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
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| Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM.
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| Mol Vis 15:1781-7.PMID: 1975331 2009
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| 4 | GUCY2D, LCA1
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| Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
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| Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, Ayuso C.
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| Hum Genet 125(3):349. No abstract available. PMID: 19320033 2009
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| 5 | CORD6, GUCY2D, LCA1
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| Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J.
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| Eur J Hum Genet 8(8):578-82. 2000
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| 6 | GUCY2D, LCA1, LCA2, RPE65
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| Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis.
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| Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J.
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| Am J Hum Genet 64(4):1225-8. 1999
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| 7 | GUCY2D, LCA1, LCA2, LCA6, RPE65
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| Leber Congenital Amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J.
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| Mol Genet Metab 68(2):200-208 1999
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| 8 | LCA1, PDE6D, PDE6G
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| Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.
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| Perrault I, et al.
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| Hum Genet 102 : 322-326. 1998
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| 9 | LCA1
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| Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
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| Camuzat A, et al.
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| Hum Genet 97 : 798-801. 1996
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| 10 | GUCY2D, LCA1
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| Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
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| Perrault I, et al.
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| Nat Genet 14 : 461-464. 1996
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| 11 | LCA1
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| A gene for Leber's congenital amaurosis maps to chromosome 17p.
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| Camuzat A, et al.
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| Hum Mol Genet 4 : 1447-1452. 1995
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