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humans (107) 107
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choroideremia (77) 77
index medicus (73) 73
ophthalmology (73) 73
female (71) 71
adult (63) 63
choroideremia - genetics (59) 59
middle aged (53) 53
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adaptor proteins, signal transducing - genetics (37) 37
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fluorescein angiography (28) 28
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eye diseases (26) 26
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animals (22) 22
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child (21) 21
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retina - pathology (20) 20
genetics & heredity (19) 19
photoreceptors (18) 18
tomography, optical coherence - methods (18) 18
retinal degeneration (17) 17
retinitis-pigmentosa (17) 17
dna mutational analysis (16) 16
genetic aspects (16) 16
genetic structures (15) 15
optical coherence tomography (15) 15
chm (14) 14
disease (14) 14
disease models, animal (14) 14
heterozygote (13) 13
polymerase chain reaction (13) 13
rab escort protein-1 (13) 13
rab geranylgeranyl transferase (13) 13
retinal pigment epithelium - pathology (13) 13
choroideremia - complications (12) 12
choroideremia - metabolism (12) 12
cloning (12) 12
mice (12) 12
research (12) 12
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article (11) 11
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adaptor proteins, signal transducing (10) 10
analysis (10) 10
base sequence (10) 10
chm gene (10) 10
diagnosis (10) 10
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macular degeneration (10) 10
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choroid - pathology (9) 9
choroideremia - therapy (9) 9
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medicine, research & experimental (9) 9
research article (9) 9
visual acuity - physiology (9) 9
x chromosome (9) 9
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genetics (8) 8
genotype (8) 8
ophthalmoscopy (8) 8
photoreceptor cells, vertebrate - pathology (8) 8
adaptor proteins, signal transducing - metabolism (7) 7
aged, 80 and over (7) 7
alkyl and aryl transferases (7) 7
blindness (7) 7
component-a (7) 7
disease progression (7) 7
gene mutations (7) 7
genetic research (7) 7
leber congenital amaurosis (7) 7
medical imaging (7) 7
methods (7) 7
molecular sequence data (7) 7
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Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, ISSN 0030-3755, 06/1949, Volume 117, Issue 6, p. 360
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 02/1990, Volume 31, Issue 2, pp. 229 - 236
Journal Article
Rinsho shinkeigaku = Clinical neurology, ISSN 0009-918X, 09/1990, Volume 30, Issue 9, p. 1010
Two brothers, 31 and 25 years of age, with distal hereditary motor neuropathy (distal HMN) and choroideremia are reported. Their parents were second cousins.... 
Choroideremia - genetics | Charcot-Marie-Tooth Disease - complications | Choroideremia - complications | Humans | Adult | Male | Electromyography | Muscles - pathology | Charcot-Marie-Tooth Disease - genetics
Journal Article
Journal of the Formosan Medical Association = Taiwan yi zhi, ISSN 0929-6646, 1991, Volume 90, Issue 11, pp. 1103 - 1112
Choroideremia is a bilateral and progressive chorioretinal degenerative disease of X-linked inheritance. In Taiwan, the disease has rarely been reported. We... 
Choroideremia - genetics | Choroideremia - physiopathology | Humans | Middle Aged | Adult | Female | Male | Choroideremia - pathology | Child
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 1995, Volume 16, Issue 4, pp. 143 - 150
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 1995, Volume 56, Issue 1, pp. 224 - 230
Journal Article
Nippon Ganka Gakkai zasshi, ISSN 0029-0203, 11/1999, Volume 103, Issue 11, p. 773
Choroideremia is an X-linked hereditary eye disease that causes progressive degeneration of the choroid and retina and frequently leads to legal blindness in... 
Choroideremia - physiopathology | Humans | Middle Aged | Male | Choroideremia - pathology | Protein Prenylation | Choroideremia - genetics | Carrier Proteins - genetics | Adaptor Proteins, Signal Transducing | Visual Fields | Adolescent | Alkyl and Aryl Transferases | Adult | Female | Heterozygote | rab GTP-Binding Proteins | Child | Fundus Oculi
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2000, Volume 37, Issue 11, pp. 836 - 841
Journal Article
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