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http://purl.uniprot.org/citations/11078852http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11078852http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11078852http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus.

Method

We examined the RDH5 gene genotype in members of a Japanese family. Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa. The RDH5 gene was analyzed by direct genomic sequencing.

Results

The proband had a compound heterozygotic missense mutation of Val177Gly (GTC-->GGC) and Arg280His (CGC-->CAC) in his RDH5 gene. His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. The occurrence of Val177Gly has not been reported in the RDH5 gene of fundus albipunctatus.

Conclusion

A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.org/dc/terms/identifier"doi:10.1016/s0002-9394(00)00765-0"xsd:string
http://purl.uniprot.org/citations/11078852http://purl.org/dc/terms/identifier"doi:10.1016/s0002-9394(00)00765-0"xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Kikuchi T."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Kikuchi T."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Yoshimura N."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Yoshimura N."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Kuroiwa S."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/author"Kuroiwa S."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/name"Am. J. Ophthalmol."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/name"Am. J. Ophthalmol."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/pages"672-675"xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/pages"672-675"xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/title"A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/title"A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus."xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/volume"130"xsd:string
http://purl.uniprot.org/citations/11078852http://purl.uniprot.org/core/volume"130"xsd:string
http://purl.uniprot.org/citations/11078852http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11078852
http://purl.uniprot.org/citations/11078852http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11078852
http://purl.uniprot.org/citations/11078852http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11078852
http://purl.uniprot.org/citations/11078852http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11078852
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