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| http://purl.uniprot.org/citations/20398889 | http://www.w3.org/2000/01/rdf-schema#comment | "Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. The identification of an index case should therefore trigger genetic counseling throughout the pedigree according to the wishes of the family."xsd:string |
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| http://purl.uniprot.org/citations/20398889 | http://purl.uniprot.org/core/author | "Conway G.S."xsd:string |
| http://purl.uniprot.org/citations/20398889 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20398889 | http://purl.uniprot.org/core/name | "Ann Endocrinol (Paris)"xsd:string |
| http://purl.uniprot.org/citations/20398889 | http://purl.uniprot.org/core/pages | "215-217"xsd:string |
| http://purl.uniprot.org/citations/20398889 | http://purl.uniprot.org/core/title | "Premature ovarian failure and FMR1 gene mutations: an update."xsd:string |
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