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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
by
Eichers, ER
,
Green, JS
,
Stockton, DW
,
Jackman, CS
,
Whelan, J
,
McNamara, JA
,
Johnson, GJ
,
Lupski, JR
,
Katsanis, N
Published 2002
Subjects:
“
...
Retinitis
Pigmentosa
...
”
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Article in Journal/Newspaper
1
Author
Eichers, ER
1
Green, JS
1
Jackman, CS
1
Johnson, GJ
1
Katsanis, N
1
Lupski, JR
1
McNamara, JA
1
Stockton, DW
1
Whelan, J
1
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Topic
Adolescent
1
Adult
1
Age of Onset
1
Aged
1
Alternative Splicing
1
Base Sequence
1
Blindness
1
Carrier Proteins
1
Child
1
Chromosome Mapping
1
DNA Mutational Analysis
1
Dark Adaptation
1
Female
1
Haplotypes
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Humans
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Lod Score
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Male
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Middle Aged
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Mutation
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Newfoundland and Labrador
1
Pedigree
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Preschool
1
RNA Splice Sites
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Retinitis Pigmentosa
1
Visual Fields
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University College London: UCL Discovery
1
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Newfoundland
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