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http://purl.uniprot.org/citations/15459172http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15459172http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15459172http://www.w3.org/2000/01/rdf-schema#comment"

Background

Balanced X;autosome translocations interrupting the 'critical region' of the long arm of the human X chromosome are often associated with premature ovarian failure (POF). However, the mechanisms leading to X-linked ovarian dysfunction are largely unknown, as the majority of the X chromosome breakpoints have been mapped to gene-free genomic regions. A few genes have been found to be interrupted, but their role has never been clarified.

Methods and results

By fine mapping of the X chromosome breakpoint of an X;autosome balanced translocation, we identified a new interrupted gene, POF1B. We performed a mutation analysis of POF1B and of another gene previously identified, DACH2, localized approximately 700 kb distal in Xq21, in a cohort of >200 Italian POF patients. Rare mutations were found in patients in both genes.

Conclusions

Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.org/dc/terms/identifier"doi:10.1093/humrep/deh502"xsd:string
http://purl.uniprot.org/citations/15459172http://purl.org/dc/terms/identifier"doi:10.1093/humrep/deh502"xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Sala C."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Sala C."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Torricelli F."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Torricelli F."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Battaglia R."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Battaglia R."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Dalpra L."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Dalpra L."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Zuffardi O."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Zuffardi O."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Manzini M.C."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Manzini M.C."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Bione S."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Bione S."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Marozzi A."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Marozzi A."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Toniolo D."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Toniolo D."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Ginelli E."xsd:string
http://purl.uniprot.org/citations/15459172http://purl.uniprot.org/core/author"Ginelli E."xsd:string
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