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http://purl.uniprot.org/citations/9538891http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9538891http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9538891http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

To report a rare case of ocular anterior segment anomalies including uveal ectropion of the iris, invasion of the conjunctival epithelia into the cornea, and posterior embryotoxon with a missense mutation of the PAX6 gene.

Methods

The authors performed polymerase chain reaction-single-strand conformation polymorphism analysis and sequencing of the PAX6 gene using genomic DNA of family members and more than 100 control subjects.

Results

The A to G transition at nucleotide 1682 in exon 13 in the patient was identified in an allele that resulted in a Gln to Arg substitution (Q422R) at the C terminus of the protein. The mutation was not found in the parents, a sibling, or control subjects.

Conclusions

The mutation indicates that the proline-serine-threonine-rich domain at the C terminus of the PAX6 protein plays a role in ocular anterior segment morphogenesis."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/author"Yamada M."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/author"Yamada M."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/author"Azuma N."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/author"Azuma N."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/date"1998"xsd:gYear
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/name"Invest. Ophthalmol. Vis. Sci."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/name"Invest. Ophthalmol. Vis. Sci."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/pages"828-830"xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/pages"828-830"xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/title"Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/title"Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies."xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/volume"39"xsd:string
http://purl.uniprot.org/citations/9538891http://purl.uniprot.org/core/volume"39"xsd:string
http://purl.uniprot.org/citations/9538891http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/9538891
http://purl.uniprot.org/citations/9538891http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/9538891
http://purl.uniprot.org/citations/9538891http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/9538891
http://purl.uniprot.org/citations/9538891http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/9538891
http://purl.uniprot.org/uniprot/P26367http://purl.uniprot.org/core/citationhttp://purl.uniprot.org/citations/9538891
http://purl.uniprot.org/uniprot/P26367#attribution-AAAE9D162319AA40F3943185B8209794http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/9538891
http://purl.uniprot.org/uniprot/#_P26367-citation-9538891http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/9538891