-
1
-
-
84887980322
-
Stargardt disease
-
E. Traboulsi, 2nd ed Oxford University Press New York
-
A. Chappelow Stargardt disease E. Traboulsi, Genetic diseases of the eye 2nd ed 2011 Oxford University Press New York 467 475
-
(2011)
Genetic Diseases of the Eye
, pp. 467-475
-
-
Chappelow, A.1
-
2
-
-
70349974684
-
Frequency of ABCA4 mutations in 278 Spanish controls: An insight into the prevalence of autosomal recessive Stargardt disease
-
R. Riveiro-Alvarez, J. Aguirre-Lamban, and M.A. Lopez-Martinez Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease Br J Ophthalmol 93 10 2009 1359 1364
-
(2009)
Br J Ophthalmol
, vol.93
, Issue.10
, pp. 1359-1364
-
-
Riveiro-Alvarez, R.1
Aguirre-Lamban, J.2
Lopez-Martinez, M.A.3
-
3
-
-
0023252063
-
Visual acuity loss in patients with Stargardt's macular dystrophy
-
G.A. Fishman, M. Farber, B.S. Patel, and D.J. Derlacki Visual acuity loss in patients with Stargardt's macular dystrophy Ophthalmology 94 7 1987 809 814
-
(1987)
Ophthalmology
, vol.94
, Issue.7
, pp. 809-814
-
-
Fishman, G.A.1
Farber, M.2
Patel, B.S.3
Derlacki, D.J.4
-
4
-
-
0038321461
-
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
-
Y. Rotenstreich, G.A. Fishman, and R.J. Anderson Visual acuity loss and clinical observations in a large series of patients with Stargardt disease Ophthalmology 110 6 2003 1151 1158
-
(2003)
Ophthalmology
, vol.110
, Issue.6
, pp. 1151-1158
-
-
Rotenstreich, Y.1
Fishman, G.A.2
Anderson, R.J.3
-
5
-
-
14944354898
-
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
-
B.J. Klevering, A.F. Deutman, A. Maugeri, F.P. Cremers, and C.B. Hoyng The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene Graefes Arch Clin Exp Ophthalmol 243 2 2005 90 100
-
(2005)
Graefes Arch Clin Exp Ophthalmol
, vol.243
, Issue.2
, pp. 90-100
-
-
Klevering, B.J.1
Deutman, A.F.2
Maugeri, A.3
Cremers, F.P.4
Hoyng, C.B.5
-
6
-
-
35148857086
-
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease
-
A. Beit-Ya'acov, L. Mizrahi-Meissonnier, and A. Obolensky Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease Invest Ophthalmol Vis Sci 48 9 2007 4308 4314
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, Issue.9
, pp. 4308-4314
-
-
Beit-Ya'Acov, A.1
Mizrahi-Meissonnier, L.2
Obolensky, A.3
-
7
-
-
0032900958
-
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
-
G.A. Fishman, E.M. Stone, S. Grover, D.J. Derlacki, H.L. Haines, and R.R. Hockey Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 4 1999 504 510
-
(1999)
Arch Ophthalmol
, vol.117
, Issue.4
, pp. 504-510
-
-
Fishman, G.A.1
Stone, E.M.2
Grover, S.3
Derlacki, D.J.4
Haines, H.L.5
Hockey, R.R.6
-
8
-
-
73349142027
-
The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene
-
M.A. Genead, G.A. Fishman, E.M. Stone, and R. Allikmets The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene Invest Ophthalmol Vis Sci 50 12 2009 5867 5871
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.12
, pp. 5867-5871
-
-
Genead, M.A.1
Fishman, G.A.2
Stone, E.M.3
Allikmets, R.4
-
9
-
-
84863773758
-
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene
-
T.R. Burke, G.A. Fishman, and J. Zernant Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene Invest Ophthalmol Vis Sci 53 8 2012 4458 4467
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, Issue.8
, pp. 4458-4467
-
-
Burke, T.R.1
Fishman, G.A.2
Zernant, J.3
-
10
-
-
0036941358
-
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation
-
C. Gerth, M. Andrassi-Darida, M. Bock, M.N. Preising, B.H. Weber, and B. Lorenz Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation Graefes Arch Clin Exp Ophthalmol 240 8 2002 628 638
-
(2002)
Graefes Arch Clin Exp Ophthalmol
, vol.240
, Issue.8
, pp. 628-638
-
-
Gerth, C.1
Andrassi-Darida, M.2
Bock, M.3
Preising, M.N.4
Weber, B.H.5
Lorenz, B.6
-
11
-
-
33644792023
-
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease
-
J. Hargitai, J. Zernant, and G.M. Somfai Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease Invest Ophthalmol Vis Sci 46 12 2005 4402 4408
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, Issue.12
, pp. 4402-4408
-
-
Hargitai, J.1
Zernant, J.2
Somfai, G.M.3
-
12
-
-
0027372405
-
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
-
J. Kaplan, S. Gerber, and D. Larget-Piet A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 Nat Gene 5 3 1993 308 311
-
(1993)
Nat Gene
, vol.5
, Issue.3
, pp. 308-311
-
-
Kaplan, J.1
Gerber, S.2
Larget-Piet, D.3
-
13
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
R. Allikmets, N. Singh, and H. Sun A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 15 3 1997 236 246
-
(1997)
Nat Genet
, vol.15
, Issue.3
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
-
14
-
-
67649286229
-
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
-
R.S. Molday, M. Zhong, and F. Quazi The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration Biochim Biophys Acta 1791 7 2009 573 583
-
(2009)
Biochim Biophys Acta
, vol.1791
, Issue.7
, pp. 573-583
-
-
Molday, R.S.1
Zhong, M.2
Quazi, F.3
-
15
-
-
54049085790
-
The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells
-
C. Vives-Bauza, M. Anand, and A.K. Shirazi The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells J Biol Chem 283 36 2008 24770 24780
-
(2008)
J Biol Chem
, vol.283
, Issue.36
, pp. 24770-24780
-
-
Vives-Bauza, C.1
Anand, M.2
Shirazi, A.K.3
-
16
-
-
0037133673
-
The lipofuscin component A2E selectively inhibits phagolysosomal degradation of photoreceptor phospholipid by the retinal pigment epithelium
-
S.C. Finnemann, L.W. Leung, and E. Rodriguez-Boulan The lipofuscin component A2E selectively inhibits phagolysosomal degradation of photoreceptor phospholipid by the retinal pigment epithelium Proc Natl Acad Sci U S A 99 6 2002 3842 3847
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, Issue.6
, pp. 3842-3847
-
-
Finnemann, S.C.1
Leung, L.W.2
Rodriguez-Boulan, E.3
-
17
-
-
12144289446
-
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence
-
A.V. Cideciyan, T.S. Aleman, and M. Swider Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence Hum Mol Genet 13 5 2004 525 534
-
(2004)
Hum Mol Genet
, vol.13
, Issue.5
, pp. 525-534
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Swider, M.3
-
18
-
-
13144294983
-
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
-
J.M. Rozet, S. Gerber, and E. Souied Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies Eur J Hum Genet 6 3 1998 291 295
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.3
, pp. 291-295
-
-
Rozet, J.M.1
Gerber, S.2
Souied, E.3
-
19
-
-
80051709984
-
Allelic and phenotypic heterogeneity in ABCA4 mutations
-
T.R. Burke, and S.H. Tsang Allelic and phenotypic heterogeneity in ABCA4 mutations Ophthalmic Genet 32 3 2011 165 174
-
(2011)
Ophthalmic Genet
, vol.32
, Issue.3
, pp. 165-174
-
-
Burke, T.R.1
Tsang, S.H.2
-
20
-
-
0033071210
-
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
-
R.A. Lewis, N.F. Shroyer, and N. Singh Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease Am J Hum Genet 64 2 1999 422 434
-
(1999)
Am J Hum Genet
, vol.64
, Issue.2
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
-
21
-
-
0035703655
-
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene
-
D.G. Birch, A.Y. Peters, K.L. Locke, R. Spencer, C.F. Megarity, and G.H. Travis Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene Exp Eye Res 73 6 2001 877 886
-
(2001)
Exp Eye Res
, vol.73
, Issue.6
, pp. 877-886
-
-
Birch, D.G.1
Peters, A.Y.2
Locke, K.L.3
Spencer, R.4
Megarity, C.F.5
Travis, G.H.6
-
22
-
-
0038348753
-
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
-
G.A. Fishman, E.M. Stone, D.A. Eliason, C.M. Taylor, M. Lindeman, and D.J. Derlacki ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy Arch Ophthalmol 121 6 2003 851 855
-
(2003)
Arch Ophthalmol
, vol.121
, Issue.6
, pp. 851-855
-
-
Fishman, G.A.1
Stone, E.M.2
Eliason, D.A.3
Taylor, C.M.4
Lindeman, M.5
Derlacki, D.J.6
-
23
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
A. Martinez-Mir, E. Paloma, and R. Allikmets Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR Nat Genet 18 1 1998 11 12
-
(1998)
Nat Genet
, vol.18
, Issue.1
, pp. 11-12
-
-
Martinez-Mir, A.1
Paloma, E.2
Allikmets, R.3
-
24
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
R. Allikmets, N.F. Shroyer, and N. Singh Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration Science 277 5333 1997 1805 1807
-
(1997)
Science
, vol.277
, Issue.5333
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
-
26
-
-
0033237315
-
The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
-
A. Maugeri, M.A. van Driel, and D.J. van de Pol The 2588G->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease Am J Hum Genet 64 4 1999 1024 1035
-
(1999)
Am J Hum Genet
, vol.64
, Issue.4
, pp. 1024-1035
-
-
Maugeri, A.1
Van Driel, M.A.2
Van De Pol, D.J.3
-
27
-
-
0033804333
-
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
-
A. Rivera, K. White, and H. Stohr A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration Am J Hum Genet 67 4 2000 800 813
-
(2000)
Am J Hum Genet
, vol.67
, Issue.4
, pp. 800-813
-
-
Rivera, A.1
White, K.2
Stohr, H.3
-
28
-
-
33747144027
-
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: Evidence of a prevalent mutated allele
-
D. Valverde, R. Riveiro-Alvarez, and S. Bernal Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele Mol Vis 12 2006 902 908
-
(2006)
Mol Vis
, vol.12
, pp. 902-908
-
-
Valverde, D.1
Riveiro-Alvarez, R.2
Bernal, S.3
-
29
-
-
10744227207
-
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
-
K. Jaakson, J. Zernant, and M. Kulm Genotyping microarray (gene chip) for the ABCR (ABCA4) gene Hum Mutat 22 5 2003 395 403
-
(2003)
Hum Mutat
, vol.22
, Issue.5
, pp. 395-403
-
-
Jaakson, K.1
Zernant, J.2
Kulm, M.3
-
30
-
-
65249142781
-
Clinical utility of the ABCR400 microarray: Basing a genetic service on a commercial gene chip
-
L.J. Roberts, R.S. Ramesar, and J. Greenberg Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip Arch Ophthalmol 127 4 2009 549 554
-
(2009)
Arch Ophthalmol
, vol.127
, Issue.4
, pp. 549-554
-
-
Roberts, L.J.1
Ramesar, R.S.2
Greenberg, J.3
-
31
-
-
84856077133
-
Analysis of the ABCA4 gene by next-generation sequencing
-
J. Zernant, C. Schubert, and K.M. Im Analysis of the ABCA4 gene by next-generation sequencing Invest Ophthalmol Vis Sci 52 11 2011 8479 8487
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, Issue.11
, pp. 8479-8487
-
-
Zernant, J.1
Schubert, C.2
Im, K.M.3
-
32
-
-
51849143740
-
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
-
S. Stenirri, G. Alaimo, M.P. Manitto, R. Brancato, M. Ferrari, and L. Cremonesi Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? Clin Chem Lab Med 46 9 2008 1250 1255
-
(2008)
Clin Chem Lab Med
, vol.46
, Issue.9
, pp. 1250-1255
-
-
Stenirri, S.1
Alaimo, G.2
Manitto, M.P.3
Brancato, R.4
Ferrari, M.5
Cremonesi, L.6
-
33
-
-
84856911239
-
Stargardt macular dystrophy: Common ABCA4 mutations in South Africa: Establishment of a rapid genetic test and relating risk to patients
-
L.J. Roberts, C.A. Nossek, L.J. Greenberg, and R.S. Ramesar Stargardt macular dystrophy: common ABCA4 mutations in South Africa: establishment of a rapid genetic test and relating risk to patients Mol Vis 18 2012 280 289
-
(2012)
Mol Vis
, vol.18
, pp. 280-289
-
-
Roberts, L.J.1
Nossek, C.A.2
Greenberg, L.J.3
Ramesar, R.S.4
-
34
-
-
0017052368
-
Fundus flavimaculatus: Aclinical classification
-
G.A. Fishman Fundus flavimaculatus: aclinical classification Arch Ophthalmol 94 12 1976 2061 2067
-
(1976)
Arch Ophthalmol
, vol.94
, Issue.12
, pp. 2061-2067
-
-
Fishman, G.A.1
-
35
-
-
84887895519
-
-
Exome Variant Server NGESPE. Seattle, WA. Available at) Accessed April 1, 2013.
-
Exome Variant Server NGESPE. Seattle, WA. Available at http://evs.gs.washington.edu/EVS/) Accessed April 1, 2013.
-
-
-
-
36
-
-
84887868264
-
-
The database of Genotypes and Phenotypes (dbGaP). Available at. Accessed April 12, 2013.
-
The database of Genotypes and Phenotypes (dbGaP). Available at http://www.ncbi.nlm.nih.gov/gap. Accessed April 12, 2013.
-
-
-
-
37
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
I.A. Adzhubei, S. Schmidt, and L. Peshkin A method and server for predicting damaging missense mutations Nat Methods 7 4 2010 248 249
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
38
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
P.C. Ng, and S. Henikoff SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 13 2003 3812 3814
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
39
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
C. Ferrer-Costa, J.L. Gelpi, L. Zamakola, I. Parraga, X. de la Cruz, and M. Orozco PMUT: a web-based tool for the annotation of pathological mutations on proteins Bioinformatics 21 14 2005 3176 3178
-
(2005)
Bioinformatics
, vol.21
, Issue.14
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
De La Cruz, X.5
Orozco, M.6
-
40
-
-
66149086607
-
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: Identification of 21 novel variants
-
J. Aguirre-Lamban, R. Riveiro-Alvarez, and S. Maia-Lopes Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants Br J Ophthalmol 93 5 2009 614 621
-
(2009)
Br J Ophthalmol
, vol.93
, Issue.5
, pp. 614-621
-
-
Aguirre-Lamban, J.1
Riveiro-Alvarez, R.2
Maia-Lopes, S.3
-
41
-
-
0035510172
-
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
-
N.F. Shroyer, R.A. Lewis, A.N. Yatsenko, T.G. Wensel, and J.R. Lupski Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration Hum Mol Genet 10 23 2001 2671 2678
-
(2001)
Hum Mol Genet
, vol.10
, Issue.23
, pp. 2671-2678
-
-
Shroyer, N.F.1
Lewis, R.A.2
Yatsenko, A.N.3
Wensel, T.G.4
Lupski, J.R.5
-
42
-
-
0033775698
-
Biochemical defects in ABCR protein variants associated with human retinopathies
-
H. Sun, P.M. Smallwood, and J. Nathans Biochemical defects in ABCR protein variants associated with human retinopathies Nat Genet 26 2 2000 242 246
-
(2000)
Nat Genet
, vol.26
, Issue.2
, pp. 242-246
-
-
Sun, H.1
Smallwood, P.M.2
Nathans, J.3
-
43
-
-
45749149163
-
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
-
V.B. Kitiratschky, T. Grau, and A. Bernd ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies Eur J Hum Genet 16 7 2008 812 819
-
(2008)
Eur J Hum Genet
, vol.16
, Issue.7
, pp. 812-819
-
-
Kitiratschky, V.B.1
Grau, T.2
Bernd, A.3
-
44
-
-
0034854473
-
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration
-
C.E. Briggs, D. Rucinski, P.J. Rosenfeld, T. Hirose, E.L. Berson, and T.P. Dryja Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration Invest Ophthalmol Vis Sci 42 10 2001 2229 2236
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, Issue.10
, pp. 2229-2236
-
-
Briggs, C.E.1
Rucinski, D.2
Rosenfeld, P.J.3
Hirose, T.4
Berson, E.L.5
Dryja, T.P.6
-
45
-
-
0035012846
-
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
-
A.N. Yatsenko, N.F. Shroyer, R.A. Lewis, and J.R. Lupski Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) Hum Genet 108 4 2001 346 355
-
(2001)
Hum Genet
, vol.108
, Issue.4
, pp. 346-355
-
-
Yatsenko, A.N.1
Shroyer, N.F.2
Lewis, R.A.3
Lupski, J.R.4
-
46
-
-
36749074541
-
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
-
M. Michaelides, L.L. Chen, and M.A. Brantley Jr. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy Br J Ophthalmol 91 12 2007 1650 1655
-
(2007)
Br J Ophthalmol
, vol.91
, Issue.12
, pp. 1650-1655
-
-
Michaelides, M.1
Chen, L.L.2
Brantley, Jr.M.A.3
-
47
-
-
84861130906
-
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene
-
L.G. Fritsche, M. Fleckenstein, and B.S. Fiebig A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene Invest Ophthalmol Vis Sci 53 4 2012 2112 2118
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, Issue.4
, pp. 2112-2118
-
-
Fritsche, L.G.1
Fleckenstein, M.2
Fiebig, B.S.3
-
48
-
-
35548994087
-
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
-
T. Rosenberg, F. Klie, P. Garred, and M. Schwartz N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population Mol Vis 13 2007 1962 1969
-
(2007)
Mol Vis
, vol.13
, pp. 1962-1969
-
-
Rosenberg, T.1
Klie, F.2
Garred, P.3
Schwartz, M.4
-
49
-
-
65249086723
-
ABCA4 mutations in Portuguese Stargardt patients: Identification of new mutations and their phenotypic analysis
-
S. Maia-Lopes, J. Aguirre-Lamban, M. Castelo-Branco, R. Riveiro-Alvarez, C. Ayuso, and E.D. Silva ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis Mol Vis 15 2009 584 591
-
(2009)
Mol Vis
, vol.15
, pp. 584-591
-
-
Maia-Lopes, S.1
Aguirre-Lamban, J.2
Castelo-Branco, M.3
Riveiro-Alvarez, R.4
Ayuso, C.5
Silva, E.D.6
-
50
-
-
0034804936
-
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
-
A. Fumagalli, M. Ferrari, and N. Soriani Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients Hum Genet 109 3 2001 326 338
-
(2001)
Hum Genet
, vol.109
, Issue.3
, pp. 326-338
-
-
Fumagalli, A.1
Ferrari, M.2
Soriani, N.3
|