METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)
Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carri...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Format: | Patent |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext bestellen |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | |
| container_start_page | |
| container_title | |
| container_volume | |
| creator | Nagan Narasimhan Braastad Corey D Zhu Hui Batish Sat Dev Jones Jeffrey G Seltzer William K Allen Susan K |
| description | Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2. |
| format | Patent |
| fullrecord | <record><control><sourceid>epo_EVB</sourceid><recordid>TN_cdi_epo_espacenet_US2017166970A1</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>US2017166970A1</sourcerecordid><originalsourceid>FETCH-epo_espacenet_US2017166970A13</originalsourceid><addsrcrecordid>eNrjZPD1dQ3x8HcJVvB3U3BxDXF1DvH0c1fwDQ1xDPH09wtWcAwO9nf2dAxxdVEI9wzxUHAMcYzwdNT1dw71cQxScAwIAnEVjBQ0HP0djTR5GFjTEnOKU3mhNDeDsptriLOHbmpBfnxqcUFicmpeakl8aLCRgaG5oZmZpbmBo6ExcaoAdJkurQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>patent</recordtype></control><display><type>patent</type><title>METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)</title><source>esp@cenet</source><creator>Nagan Narasimhan ; Braastad Corey D ; Zhu Hui ; Batish Sat Dev ; Jones Jeffrey G ; Seltzer William K ; Allen Susan K</creator><creatorcontrib>Nagan Narasimhan ; Braastad Corey D ; Zhu Hui ; Batish Sat Dev ; Jones Jeffrey G ; Seltzer William K ; Allen Susan K</creatorcontrib><description>Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.</description><language>eng</language><subject>BEER ; BIOCHEMISTRY ; CHEMISTRY ; COMPOSITIONS OR TEST PAPERS THEREFOR ; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ; ENZYMOLOGY ; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS ; METALLURGY ; MICROBIOLOGY ; MUTATION OR GENETIC ENGINEERING ; PROCESSES OF PREPARING SUCH COMPOSITIONS ; SPIRITS ; VINEGAR ; WINE</subject><creationdate>2017</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20170615&DB=EPODOC&CC=US&NR=2017166970A1$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,780,885,25563,76418</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20170615&DB=EPODOC&CC=US&NR=2017166970A1$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>Nagan Narasimhan</creatorcontrib><creatorcontrib>Braastad Corey D</creatorcontrib><creatorcontrib>Zhu Hui</creatorcontrib><creatorcontrib>Batish Sat Dev</creatorcontrib><creatorcontrib>Jones Jeffrey G</creatorcontrib><creatorcontrib>Seltzer William K</creatorcontrib><creatorcontrib>Allen Susan K</creatorcontrib><title>METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)</title><description>Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.</description><subject>BEER</subject><subject>BIOCHEMISTRY</subject><subject>CHEMISTRY</subject><subject>COMPOSITIONS OR TEST PAPERS THEREFOR</subject><subject>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</subject><subject>ENZYMOLOGY</subject><subject>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</subject><subject>METALLURGY</subject><subject>MICROBIOLOGY</subject><subject>MUTATION OR GENETIC ENGINEERING</subject><subject>PROCESSES OF PREPARING SUCH COMPOSITIONS</subject><subject>SPIRITS</subject><subject>VINEGAR</subject><subject>WINE</subject><fulltext>true</fulltext><rsrctype>patent</rsrctype><creationdate>2017</creationdate><recordtype>patent</recordtype><sourceid>EVB</sourceid><recordid>eNrjZPD1dQ3x8HcJVvB3U3BxDXF1DvH0c1fwDQ1xDPH09wtWcAwO9nf2dAxxdVEI9wzxUHAMcYzwdNT1dw71cQxScAwIAnEVjBQ0HP0djTR5GFjTEnOKU3mhNDeDsptriLOHbmpBfnxqcUFicmpeakl8aLCRgaG5oZmZpbmBo6ExcaoAdJkurQ</recordid><startdate>20170615</startdate><enddate>20170615</enddate><creator>Nagan Narasimhan</creator><creator>Braastad Corey D</creator><creator>Zhu Hui</creator><creator>Batish Sat Dev</creator><creator>Jones Jeffrey G</creator><creator>Seltzer William K</creator><creator>Allen Susan K</creator><scope>EVB</scope></search><sort><creationdate>20170615</creationdate><title>METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)</title><author>Nagan Narasimhan ; Braastad Corey D ; Zhu Hui ; Batish Sat Dev ; Jones Jeffrey G ; Seltzer William K ; Allen Susan K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-epo_espacenet_US2017166970A13</frbrgroupid><rsrctype>patents</rsrctype><prefilter>patents</prefilter><language>eng</language><creationdate>2017</creationdate><topic>BEER</topic><topic>BIOCHEMISTRY</topic><topic>CHEMISTRY</topic><topic>COMPOSITIONS OR TEST PAPERS THEREFOR</topic><topic>CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES</topic><topic>ENZYMOLOGY</topic><topic>MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS</topic><topic>METALLURGY</topic><topic>MICROBIOLOGY</topic><topic>MUTATION OR GENETIC ENGINEERING</topic><topic>PROCESSES OF PREPARING SUCH COMPOSITIONS</topic><topic>SPIRITS</topic><topic>VINEGAR</topic><topic>WINE</topic><toplevel>online_resources</toplevel><creatorcontrib>Nagan Narasimhan</creatorcontrib><creatorcontrib>Braastad Corey D</creatorcontrib><creatorcontrib>Zhu Hui</creatorcontrib><creatorcontrib>Batish Sat Dev</creatorcontrib><creatorcontrib>Jones Jeffrey G</creatorcontrib><creatorcontrib>Seltzer William K</creatorcontrib><creatorcontrib>Allen Susan K</creatorcontrib><collection>esp@cenet</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Nagan Narasimhan</au><au>Braastad Corey D</au><au>Zhu Hui</au><au>Batish Sat Dev</au><au>Jones Jeffrey G</au><au>Seltzer William K</au><au>Allen Susan K</au><format>patent</format><genre>patent</genre><ristype>GEN</ristype><title>METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2)</title><date>2017-06-15</date><risdate>2017</risdate><abstract>Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.</abstract><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext_linktorsrc |
| identifier | |
| ispartof | |
| issn | |
| language | eng |
| recordid | cdi_epo_espacenet_US2017166970A1 |
| source | esp@cenet |
| subjects | BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS VINEGAR WINE |
| title | METHODS OF DETECTING MUTATIONS ASSOCIATED WITH ATAXIA-OCULAR APRAXIA 2 (AOA2) |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T16%3A43%3A59IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-epo_EVB&rft_val_fmt=info:ofi/fmt:kev:mtx:patent&rft.genre=patent&rft.au=Nagan%20Narasimhan&rft.date=2017-06-15&rft_id=info:doi/&rft_dat=%3Cepo_EVB%3EUS2017166970A1%3C/epo_EVB%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true |