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Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running eac...
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| Published in: | Molecular and cellular probes 1997-08, Vol.11 (4), p.287-292 |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c339t-9ddd30399721775e555334ab7ac0c34cbf6593a4423314e670865151addc56f33 |
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| cites | cdi_FETCH-LOGICAL-c339t-9ddd30399721775e555334ab7ac0c34cbf6593a4423314e670865151addc56f33 |
| container_end_page | 292 |
| container_issue | 4 |
| container_start_page | 287 |
| container_title | Molecular and cellular probes |
| container_volume | 11 |
| creator | Axton, R.A. Hanson, I.M. Love, J. Seawright, A. Prosser, J. van Heyningen, V. |
| description | We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described.. |
| doi_str_mv | 10.1006/mcpr.1997.0117 |
| format | article |
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A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..</description><identifier>ISSN: 0890-8508</identifier><identifier>EISSN: 1096-1194</identifier><identifier>DOI: 10.1006/mcpr.1997.0117</identifier><identifier>PMID: 9281415</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>aniridia ; Aniridia - genetics ; combined SSCP/heteroduplex analysis ; DNA-Binding Proteins - genetics ; Eye Proteins ; Female ; Homeodomain Proteins ; Humans ; Male ; Mutation ; Nucleic Acid Heteroduplexes ; Paired Box Transcription Factors ; PAX6 mutation screening ; PAX6 Transcription Factor ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins</subject><ispartof>Molecular and cellular probes, 1997-08, Vol.11 (4), p.287-292</ispartof><rights>1997 Academic Press</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c339t-9ddd30399721775e555334ab7ac0c34cbf6593a4423314e670865151addc56f33</citedby><cites>FETCH-LOGICAL-c339t-9ddd30399721775e555334ab7ac0c34cbf6593a4423314e670865151addc56f33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9281415$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Axton, R.A.</creatorcontrib><creatorcontrib>Hanson, I.M.</creatorcontrib><creatorcontrib>Love, J.</creatorcontrib><creatorcontrib>Seawright, A.</creatorcontrib><creatorcontrib>Prosser, J.</creatorcontrib><creatorcontrib>van Heyningen, V.</creatorcontrib><title>Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations</title><title>Molecular and cellular probes</title><addtitle>Mol Cell Probes</addtitle><description>We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..</description><subject>aniridia</subject><subject>Aniridia - genetics</subject><subject>combined SSCP/heteroduplex analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Eye Proteins</subject><subject>Female</subject><subject>Homeodomain Proteins</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Nucleic Acid Heteroduplexes</subject><subject>Paired Box Transcription Factors</subject><subject>PAX6 mutation screening</subject><subject>PAX6 Transcription Factor</subject><subject>Pedigree</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Repressor Proteins</subject><issn>0890-8508</issn><issn>1096-1194</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNp1kM1LwzAYxoMoc06v3oScvLVLmqZtjqPoFAYOpuAtpMlbF-mXSSvuv7dlw5un9_B88Lw_hG4pCSkhybLWnQupEGlIKE3P0JwSkQSUivgczUkmSJBxkl2iK-8_CSEiJtkMzUSU0ZjyOVrnbV3YBgze7fLtcg89uNYMXQU_WDWqOnjrsW1wvwfstQNobPOBy9bh7eo9wfXQq962jb9GF6WqPNyc7gK9PT685k_B5mX9nK82gWZM9IEwxjDCxrkRTVMOnHPGYlWkShPNYl2UCRdMxXHEGI0hSUmWcMqpMkbzpGRsge6PvZ1rvwbwvayt11BVqoF28DIVERfZGF-g8GjUrvXeQSk7Z2vlDpISOZGTEzk5kZMTuTFwd2oeihrMn_2EatSzow7je98WnPTaQqPBWAe6l6a1_1X_AojSe7Q</recordid><startdate>19970801</startdate><enddate>19970801</enddate><creator>Axton, R.A.</creator><creator>Hanson, I.M.</creator><creator>Love, J.</creator><creator>Seawright, A.</creator><creator>Prosser, J.</creator><creator>van Heyningen, V.</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19970801</creationdate><title>Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations</title><author>Axton, R.A. ; Hanson, I.M. ; Love, J. ; Seawright, A. ; Prosser, J. ; van Heyningen, V.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c339t-9ddd30399721775e555334ab7ac0c34cbf6593a4423314e670865151addc56f33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>aniridia</topic><topic>Aniridia - genetics</topic><topic>combined SSCP/heteroduplex analysis</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Eye Proteins</topic><topic>Female</topic><topic>Homeodomain Proteins</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Nucleic Acid Heteroduplexes</topic><topic>Paired Box Transcription Factors</topic><topic>PAX6 mutation screening</topic><topic>PAX6 Transcription Factor</topic><topic>Pedigree</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Repressor Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Axton, R.A.</creatorcontrib><creatorcontrib>Hanson, I.M.</creatorcontrib><creatorcontrib>Love, J.</creatorcontrib><creatorcontrib>Seawright, A.</creatorcontrib><creatorcontrib>Prosser, J.</creatorcontrib><creatorcontrib>van Heyningen, V.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular and cellular probes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Axton, R.A.</au><au>Hanson, I.M.</au><au>Love, J.</au><au>Seawright, A.</au><au>Prosser, J.</au><au>van Heyningen, V.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations</atitle><jtitle>Molecular and cellular probes</jtitle><addtitle>Mol Cell Probes</addtitle><date>1997-08-01</date><risdate>1997</risdate><volume>11</volume><issue>4</issue><spage>287</spage><epage>292</epage><pages>287-292</pages><issn>0890-8508</issn><eissn>1096-1194</eissn><abstract>We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. 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| fulltext | fulltext |
| identifier | ISSN: 0890-8508 |
| ispartof | Molecular and cellular probes, 1997-08, Vol.11 (4), p.287-292 |
| issn | 0890-8508 1096-1194 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79259842 |
| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | aniridia Aniridia - genetics combined SSCP/heteroduplex analysis DNA-Binding Proteins - genetics Eye Proteins Female Homeodomain Proteins Humans Male Mutation Nucleic Acid Heteroduplexes Paired Box Transcription Factors PAX6 mutation screening PAX6 Transcription Factor Pedigree Polymorphism, Single-Stranded Conformational Repressor Proteins |
| title | Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations |
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