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LEBER CONGENITAL AMAUROSIS 8
Known as:
LCA8
National Institutes of Health
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Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
K. Kuniyoshi
,
K. Ikeo
,
+8 authors
T. Iwata
Documenta Ophthalmologica
2015
Corpus ID: 8522773
AbstractPurpose To report novel mutations in the CRB1 gene in two patients with early-onset retinal dystrophy (EORD) and the…
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2014
2014
Variabilidad genética poblacional de alpacas Vicugna pacos determinada por marcadores microsatélites en el Centro Piloto Munay Paqocha y del Fundo Itita, Puno-Perú
Yalta Macedo
,
C. Esther
2014
Corpus ID: 86095380
In order to contribute to breeding programs for camelids, we sought to determine the genetic variability and the inbreeding level…
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2012
2012
Genetic ablation of Pals 1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis
Seo-Hee Cho
,
Jin Young Kim
,
+6 authors
Seonhee Kim
2012
Corpus ID: 85445067
Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide…
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