Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationImproving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
P2860
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
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2014 nî lūn-bûn
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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
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2014年論文
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2014年論文
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2014年论文
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Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@ast
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@en
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@nl
type
label
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@ast
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@en
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@nl
prefLabel
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@ast
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@en
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@nl
P2093
P2860
P1433
P1476
Novel RP1 mutations and a recu ...... henotypes in the same pedigree
@en
P2093
Alicia Vela-Boza
Cristina Méndez-Vidal
Guillermo Antiñolo
Joaquín Dopazo
Salud Borrego
P2860
P2888
P356
10.1186/S12863-014-0143-2
P577
2014-12-14T00:00:00Z
P5875
P6179
1027353731