Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyNext-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaA TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.
P2860
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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2013年學術文章
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name
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@en
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@nl
type
label
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@en
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@nl
prefLabel
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@en
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@nl
P2093
P50
P1433
P1476
Involvement of LCA5 in Leber c ...... osa in the Spanish population.
@en
P2093
Almudena Avila-Fernandez
Berta Almoguera
Blanca García-Sandoval
Esther Martín-Garrido
Fiona Blanco-Kelly
Frans P M Cremers
María Isabel López-Molina
Rosa Riveiro-Alvarez
Sorina D Tatu
P304
P356
10.1016/J.OPHTHA.2013.08.028
P577
2013-10-18T00:00:00Z