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Article

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis

6 Aug 2014

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25096270
DOI: 10.1007/s10384-014-0339-z

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Related research

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A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosisPMID 25096270Read ↗

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.Semantic proximity Read ↗

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Semantic proximity Read ↗

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.Semantic proximity Read ↗

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.Semantic proximity Read ↗

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.Semantic proximity Read ↗

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.Semantic proximity Read ↗

Leber congenital amaurosis: Genes, proteins and disease mechanismsSemantic proximity Read ↗

Leber congenital amaurosis caused by mutations in RPGRIP1.Semantic proximity Read ↗

Novel mutation identified in Leber congenital amaurosis - a case report.Semantic proximity Read ↗

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.Semantic proximity Read ↗

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.Semantic proximity Read ↗

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese PatientsSemantic proximity Read ↗

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