-
1
-
-
0001871537
-
Uber retinitis pigmentosa and angeborene amaurose
-
Leber T. Uber retinitis pigmentosa and angeborene amaurose. Graefes Arch Klin Exp Ophthalmol. 15:1869;13-20.
-
(1869)
Graefes Arch Klin Exp Ophthalmol
, vol.15
, pp. 13-20
-
-
Leber, T.1
-
2
-
-
84940140093
-
L'importance diagnostique de l'électrorétinogramme dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie
-
Franceschetti A, Dieterle P. L'importance diagnostique de l'électrorétinogramme dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Conf Neurol. 14:1954;184-186.
-
(1954)
Conf Neurol
, vol.14
, pp. 184-186
-
-
Franceschetti, A.1
Dieterle, P.2
-
4
-
-
0024996675
-
Clinical and genetic heterogeneity in retinitis pigmentosa
-
Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier J L. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 85:1990;635-642.
-
(1990)
Hum Genet
, vol.85
, pp. 635-642
-
-
Kaplan, J.1
Bonneau, D.2
Frézal, J.3
Munnich, A.4
Dufier, J.L.5
-
5
-
-
0002360225
-
On various recessive biotypes of Leber congenital amaurosis
-
Waardenburg P J, Schappert-Kimmijser J. On various recessive biotypes of Leber congenital amaurosis. Acta Ophthalmol. 41:1963;317-320.
-
(1963)
Acta Ophthalmol
, vol.41
, pp. 317-320
-
-
Waardenburg, P.J.1
Schappert-Kimmijser, J.2
-
6
-
-
84924637901
-
Dégénérescence Tapéto-rétinienne (type Leber) avec aspect marbré du fond d'oeil périphérique
-
Franceschetti A, Forni S. Dégénérescence Tapéto-rétinienne (type Leber) avec aspect marbré du fond d'oeil périphérique. Ophthalmologica. 135:1958;610-616.
-
(1958)
Ophthalmologica
, vol.135
, pp. 610-616
-
-
Franceschetti, A.1
Forni, S.2
-
9
-
-
0014236348
-
Keratoconus in congenital diffuse tapetoretinal degeneration
-
Karel I. Keratoconus in congenital diffuse tapetoretinal degeneration. Ophthalmologica. 155:1968;8-15.
-
(1968)
Ophthalmologica
, vol.155
, pp. 8-15
-
-
Karel, I.1
-
11
-
-
0008670292
-
Clinical and genetic heterogeneity of Leber congenital amaurosis
-
J. G Hollyfield. New York: Plenum
-
Dollfus H, Rozet J M, Delrieu O, Vignal A, Ghazi I, Dufier J L, Mattei M G, Weinssenbach J, Frezal J, Kaplan J, Munnich A. Clinical and genetic heterogeneity of Leber congenital amaurosis. Hollyfield J G. Retinal Degeneration. 1993;143-152 Plenum, New York.
-
(1993)
Retinal Degeneration
, pp. 143-152
-
-
Dollfus, H.1
Rozet, J.M.2
Delrieu, O.3
Vignal, A.4
Ghazi, I.5
Dufier, J.L.6
Mattei, M.G.7
Weinssenbach, J.8
Frezal, J.9
Kaplan, J.10
Munnich, A.11
-
12
-
-
0029119784
-
A gene for Leber congenital amaurosis maps to chromosome 17p
-
Camuzat A, Dollfus H, Rozet J M, Gerber S, Bonneau D, Bonnemaison M, Briard M L, Dufier J L, Ghazi I, Leowski C, Weissenbach J, Frezal J, Munnich A, Kaplan J. A gene for Leber congenital amaurosis maps to chromosome 17p. Hum Mol Genet. 8:1995;1447-1452.
-
(1995)
Hum Mol Genet
, vol.8
, pp. 1447-1452
-
-
Camuzat, A.1
Dollfus, H.2
Rozet, J.M.3
Gerber, S.4
Bonneau, D.5
Bonnemaison, M.6
Briard, M.L.7
Dufier, J.L.8
Ghazi, I.9
Leowski, C.10
Weissenbach, J.11
Frezal, J.12
Munnich, A.13
Kaplan, J.14
-
13
-
-
0029920667
-
Evidence of genetic heterogeneity of Leber congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
-
Camuzat A, Rozet J M, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J. Evidence of genetic heterogeneity of Leber congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet. 97:1996;798-801.
-
(1996)
Hum Genet
, vol.97
, pp. 798-801
-
-
Camuzat, A.1
Rozet, J.M.2
Dollfus, H.3
Gerber, S.4
Perrault, I.5
Weissenbach, J.6
Munnich, A.7
Kaplan, J.8
-
14
-
-
16144363583
-
Retinal-specific guanylate cyclase gene mutations in Leber congenital amaurosis
-
Perrault I, Rozet J M, Calvas P, Gerber S, Camuzat A, Dollfus H, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frezal J, Dufier J L, Pittler S, Munnich A, Kaplan J. Retinal-specific guanylate cyclase gene mutations in Leber congenital amaurosis. Nature Genet. 14:1996;461-464.
-
(1996)
Nature Genet
, vol.14
, pp. 461-464
-
-
Perrault, I.1
Rozet, J.M.2
Calvas, P.3
Gerber, S.4
Camuzat, A.5
Dollfus, H.6
Chatelin, S.7
Souied, E.8
Ghazi, I.9
Leowski, C.10
Bonnemaison, M.11
Le Paslier, D.12
Frezal, J.13
Dufier, J.L.14
Pittler, S.15
Munnich, A.16
Kaplan, J.17
-
15
-
-
0028067405
-
Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1
-
Oliveira L, Miniou P, Viegas-Pequignot E, Rozet J M, Dollfus H, Pittler S J. Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. Genomics. 22:1994;478-481.
-
(1994)
Genomics
, vol.22
, pp. 478-481
-
-
Oliveira, L.1
Miniou, P.2
Viegas-Pequignot, E.3
Rozet, J.M.4
Dollfus, H.5
Pittler, S.J.6
-
16
-
-
0026661979
-
Molecular cloning of a retina-specific membrane guanylyl cyclase
-
Shyjan A W, de Sauvage F J, Gillett N A, Goeddel D V, Lowe D G. Molecular cloning of a retina-specific membrane guanylyl cyclase. Neuron. 9:1992;727-737.
-
(1992)
Neuron
, vol.9
, pp. 727-737
-
-
Shyjan, A.W.1
De Sauvage, F.J.2
Gillett, N.A.3
Goeddel, D.V.4
Lowe, D.G.5
-
17
-
-
17144433335
-
Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina
-
Yang R B, Fulle H J, Garbers D L. Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. Genomics. 31:1996;367-372.
-
(1996)
Genomics
, vol.31
, pp. 367-372
-
-
Yang, R.B.1
Fulle, H.J.2
Garbers, D.L.3
-
18
-
-
15844405616
-
The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain
-
Laura R P, Dizhoor A M, Hurley J B. The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain. J Biol Chem. 271:1996;11646-11651.
-
(1996)
J Biol Chem
, vol.271
, pp. 11646-11651
-
-
Laura, R.P.1
Dizhoor, A.M.2
Hurley, J.B.3
-
19
-
-
0030894570
-
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
-
Kelsell E R, Evans K, Gregory Y C, Moore T A, Bird C A, Hunt M D. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet. 4:1997;597-600.
-
(1997)
Hum Mol Genet
, vol.4
, pp. 597-600
-
-
Kelsell, E.R.1
Evans, K.2
Gregory, Y.C.3
Moore, T.A.4
Bird, C.A.5
Hunt, M.D.6
-
20
-
-
0345367079
-
Dominant cone-rod dystrophy caused by mutations of the retinal guanylate cyclase (retGC-1) gene
-
Kelsell R E, Gregory-Evans K, Payne A M, Perrault I, Kaplan J, Yang R B, Garbers D L, Bird A C, Moore A T, Hunt D M. Dominant cone-rod dystrophy caused by mutations of the retinal guanylate cyclase (retGC-1) gene. Hum Mol Genet. 7:1998;1179.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1179
-
-
Kelsell, R.E.1
Gregory-Evans, K.2
Payne, A.M.3
Perrault, I.4
Kaplan, J.5
Yang, R.B.6
Garbers, D.L.7
Bird, A.C.8
Moore, A.T.9
Hunt, D.M.10
-
21
-
-
0032231352
-
A retGC-1 mutation in autosomal dominant cone-rod dystrophy
-
Perrault I, Rozet J M, Gerber S, Kelsell R E, Souied E, Cabot A, Hunt D M, Munnich A, Kaplan J. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet. 63:1998;651-654.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 651-654
-
-
Perrault, I.1
Rozet, J.M.2
Gerber, S.3
Kelsell, R.E.4
Souied, E.5
Cabot, A.6
Hunt, D.M.7
Munnich, A.8
Kaplan, J.9
-
22
-
-
0024581642
-
Molecular mechanism of visual phototransduction
-
Chabre M, Deterre P. Molecular mechanism of visual phototransduction. Eur J Biochem. 179:1989;255-266.
-
(1989)
Eur J Biochem
, vol.179
, pp. 255-266
-
-
Chabre, M.1
Deterre, P.2
-
23
-
-
0031966698
-
Clinical blindness: Current concepts in the pathogenesis of human outer retinal dystrophies
-
Gregory-Evans K, Bhattacharya S S. Clinical blindness: Current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 3:1998;103-108.
-
(1998)
Trends Genet
, vol.3
, pp. 103-108
-
-
Gregory-Evans, K.1
Bhattacharya, S.S.2
-
24
-
-
0028360657
-
The human photoreceptor membrane guanylate cyclase is present in outer segments and is regulated by calcium and soluble activator
-
Dizhoor A M, Lowe D G, Olshevskaya E U, Laura R P, Hurley J B. The human photoreceptor membrane guanylate cyclase is present in outer segments and is regulated by calcium and soluble activator. Neuron. 12:1994;1345-1352.
-
(1994)
Neuron
, vol.12
, pp. 1345-1352
-
-
Dizhoor, A.M.1
Lowe, D.G.2
Olshevskaya, E.U.3
Laura, R.P.4
Hurley, J.B.5
-
25
-
-
0025260486
-
Cyclic GMP and photoreceptor function
-
Lolley R N, Lee R H. Cyclic GMP and photoreceptor function. FASEB J. 4:1990;3001-3008.
-
(1990)
FASEB J
, vol.4
, pp. 3001-3008
-
-
Lolley, R.N.1
Lee, R.H.2
-
26
-
-
0031252434
-
Mutations in RPE65 cause Leber congenital amaurosis
-
Marlhens F, Bareil C, Griffoin J M, Zrenner E, Amalric P, Eliaou C, Liu S Y, Harris E, Redmond T M, Arnaud B, Claustres M, Hamel C P. Mutations in RPE65 cause Leber congenital amaurosis. Nature Genet. 17:1997;139-141.
-
(1997)
Nature Genet
, vol.17
, pp. 139-141
-
-
Marlhens, F.1
Bareil, C.2
Griffoin, J.M.3
Zrenner, E.4
Amalric, P.5
Eliaou, C.6
Liu, S.Y.7
Harris, E.8
Redmond, T.M.9
Arnaud, B.10
Claustres, M.11
Hamel, C.P.12
-
27
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
-
Gu S, Thompson D A, Srikumari C RS, Lorenz B, Finckh U, Nicoletti A, Murthy K R, Rathmann M, Kumaramanickavel G, Denton M J, Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet. 17:1997;194-197.
-
(1997)
Nature Genet
, vol.17
, pp. 194-197
-
-
Gu, S.1
Thompson, D.A.2
Srikumari, C.R.3
Lorenz, B.4
Finckh, U.5
Nicoletti, A.6
Murthy, K.R.7
Rathmann, M.8
Kumaramanickavel, G.9
Denton, M.J.10
Gal, A.11
-
28
-
-
0032539851
-
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
-
Morimura H, Fishman G A, Grover S A, Fulton A B, Berson E L, Dryja T P. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA. 95:1998;3088-3093.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 3088-3093
-
-
Morimura, H.1
Fishman, G.A.2
Grover, S.A.3
Fulton, A.B.4
Berson, E.L.5
Dryja, T.P.6
-
29
-
-
0027242119
-
Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
-
Hamel C P, Tsilou E, Pfeffer B A, Hooks J J, Detrick B, Redmond T M. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem. 268:1993;15751-15757.
-
(1993)
J Biol Chem
, vol.268
, pp. 15751-15757
-
-
Hamel, C.P.1
Tsilou, E.2
Pfeffer, B.A.3
Hooks, J.J.4
Detrick, B.5
Redmond, T.M.6
-
30
-
-
0028272994
-
The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3
-
Hamel C P, Jenkins N A, Gilbert D J, Copeland N G, Redmond T M. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. Genomics. 20:1994;509-512.
-
(1994)
Genomics
, vol.20
, pp. 509-512
-
-
Hamel, C.P.1
Jenkins, N.A.2
Gilbert, D.J.3
Copeland, N.G.4
Redmond, T.M.5
-
31
-
-
0033362015
-
Different functional outcome of retGC1 and RPE65 gene mutations in Leber congenital amaurosis
-
Perrault I, Rozet J M, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier J L, Munnich A, Kaplan J. Different functional outcome of retGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet. 64:1999;1225-1228.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1225-1228
-
-
Perrault, I.1
Rozet, J.M.2
Ghazi, I.3
Leowski, C.4
Bonnemaison, M.5
Gerber, S.6
Ducroq, D.7
Cabot, A.8
Souied, E.9
Dufier, J.L.10
Munnich, A.11
Kaplan, J.12
-
32
-
-
0344337138
-
Different mutations in RPE65 are associated with variability in the severity of retinal dystrophies
-
Hamel C P, Marlhens F, Griffoin J M, Bariel B, Claustres M, Arnaud B. Different mutations in RPE65 are associated with variability in the severity of retinal dystrophies. Exp Eye Res. 67:1998;A893.
-
(1998)
Exp Eye Res
, vol.67
, pp. 893
-
-
Hamel, C.P.1
Marlhens, F.2
Griffoin, J.M.3
Bariel, B.4
Claustres, M.5
Arnaud, B.6
-
33
-
-
0030669568
-
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
-
Freund C L, Gregory-Evans C Y, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick J A, Duncan A, Scherer S W, Tsui L C, Loutradis-Anagnostou A, Jacobson S G, Cepko C L, Bhattacharya S S, McInnes R R. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 91:1997;543-553.
-
(1997)
Cell
, vol.91
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
Ploder, L.6
Bellingham, J.7
Ng, D.8
Herbrick, J.A.9
Duncan, A.10
Scherer, S.W.11
Tsui, L.C.12
Loutradis-Anagnostou, A.13
Jacobson, S.G.14
Cepko, C.L.15
Bhattacharya, S.S.16
McInnes, R.R.17
-
34
-
-
0001949447
-
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis (LCA)
-
Mc Innes R R, Freund C L, Chen S, Wang O L, Ploder L, Jacobson S G, Zack D J, Stone E M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis (LCA). Exp Eye Res. 67:1998;A81.
-
(1998)
Exp Eye Res
, vol.67
, pp. 81
-
-
Mc Innes, R.R.1
Freund, C.L.2
Chen, S.3
Wang, O.L.4
Ploder, L.5
Jacobson, S.G.6
Zack, D.J.7
Stone, E.M.8
-
35
-
-
0032037626
-
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
-
Freund C L, Wang Q L, Chen S, Muskat B L, Wiles C D, Sheffield V C, Jacobson S G, McInnes R R, Zack D J, Stone E M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genet. 18:1998;311-312.
-
(1998)
Nature Genet
, vol.18
, pp. 311-312
-
-
Freund, C.L.1
Wang, Q.L.2
Chen, S.3
Muskat, B.L.4
Wiles, C.D.5
Sheffield, V.C.6
Jacobson, S.G.7
McInnes, R.R.8
Zack, D.J.9
Stone, E.M.10
-
36
-
-
0032929074
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
-
Swaroop A, Wang Q L, Wu W, Cook J, Coats C, Xu S, Chen S, Zack D J, Sieving P A. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet. 8:1999;299-305.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 299-305
-
-
Swaroop, A.1
Wang, Q.L.2
Wu, W.3
Cook, J.4
Coats, C.5
Xu, S.6
Chen, S.7
Zack, D.J.8
Sieving, P.A.9
-
37
-
-
0345631618
-
A cone rod homeobox (CRX) null mutation is associated with Leber's congenital amaurosis and with a normal phenotype
-
Silva E, Yang J M, Dharmaraj S, Li Y Y, Sundin O, Maumenee I H. A cone rod homeobox (CRX) null mutation is associated with Leber's congenital amaurosis and with a normal phenotype. IOVS. 40:1999.
-
(1999)
IOVS
, vol.40
-
-
Silva, E.1
Yang, J.M.2
Dharmaraj, S.3
Li, Y.Y.4
Sundin, O.5
Maumenee, I.H.6
-
38
-
-
0021128921
-
Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG
-
Ulshafer R J, Allen C, Dawson W W, Wolf E D. Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG. Exp Eye Res. 39:1984;125-135.
-
(1984)
Exp Eye Res
, vol.39
, pp. 125-135
-
-
Ulshafer, R.J.1
Allen, C.2
Dawson, W.W.3
Wolf, E.D.4
-
39
-
-
0022313270
-
Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis
-
Ulshafer R J, Allen C B. Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis. Exp Eye Res. 40:1985;865-877.
-
(1985)
Exp Eye Res
, vol.40
, pp. 865-877
-
-
Ulshafer, R.J.1
Allen, C.B.2
-
40
-
-
0022374532
-
Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens
-
Ulshafer R J, Allen C B. Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens. Curr Eye Res. 4:1985;1009-1021.
-
(1985)
Curr Eye Res
, vol.4
, pp. 1009-1021
-
-
Ulshafer, R.J.1
Allen, C.B.2
-
41
-
-
0032477872
-
A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
-
Semple-Rowland S L, Lee N R, Van Hooser J P, Palczewski K, Baehr W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA. 95:1998;1271-1276.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1271-1276
-
-
Semple-Rowland, S.L.1
Lee, N.R.2
Van Hooser, J.P.3
Palczewski, K.4
Baehr, W.5
-
42
-
-
0345631617
-
Detectable responses to light in guanylyl cyclase (GC-E) deficient mice
-
Birch D G, Yang R B, Garbers D L. Detectable responses to light in guanylyl cyclase (GC-E) deficient mice. Invest Ophthalmol Vis Sci. 4:1998;A 2992.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.4
, pp. 2992
-
-
Birch, D.G.1
Yang, R.B.2
Garbers, D.L.3
-
43
-
-
0344769143
-
Characterization of a RPE65 knock out mouse: A model for Leber congenital amaurosis type II
-
Redmond M, Yu S, Lee E, Bok D, Hamasaki D, Pfeifer K. Characterization of a RPE65 knock out mouse: A model for Leber congenital amaurosis type II. Invest Ophthalmol Vis Sci. 4:1998;2994.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.4
, pp. 2994
-
-
Redmond, M.1
Yu, S.2
Lee, E.3
Bok, D.4
Hamasaki, D.5
Pfeifer, K.6
-
44
-
-
0031763490
-
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
-
Marlhens F, Griffoin J M, Bareil C, Arnaud B, Claustres M, Hamel C. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. Eur J Hum Genet. 6:1998;527-531.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 527-531
-
-
Marlhens, F.1
Griffoin, J.M.2
Bareil, C.3
Arnaud, B.4
Claustres, M.5
Hamel, C.6
-
45
-
-
0031447030
-
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
-
Swain P K, Chen S, Wang Q-L, Affatigato L M, Coats C L, Brady K D, Fishman G A, Jacobson S G, Swaroop A, Stone E, Sicving P A, Zack D J. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 19:1997;1329-1336.
-
(1997)
Neuron
, vol.19
, pp. 1329-1336
-
-
Swain, P.K.1
Chen, S.2
Wang, Q.-L.3
Affatigato, L.M.4
Coats, C.L.5
Brady, K.D.6
Fishman, G.A.7
Jacobson, S.G.8
Swaroop, A.9
Stone, E.10
Sicving, P.A.11
Zack, D.J.12
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