Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family
Identifieur interne : 000222 ( Pmc/Curation ); précédent : 000221; suivant : 000223Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family
Auteurs : Ashwin Dalal [Inde] ; Aneek D. Bhowmik [Inde] ; Divya Agarwal [Inde] ; Shubha R. Phadke [Inde]Source :
- The Indian Journal of Medical Research [ 0971-5916 ] ; 2015.
Url:
DOI: 10.4103/0971-5916.164262
PubMed: 26354221
PubMed Central: 4613445
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Bhowmik</name><affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea></affiliation></author><author><name sortKey="Agarwal, Divya" sort="Agarwal, Divya" uniqKey="Agarwal D" first="Divya" last="Agarwal">Divya Agarwal</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea></affiliation></author><author><name sortKey="Phadke, Shubha R" sort="Phadke, Shubha R" uniqKey="Phadke S" first="Shubha R." last="Phadke">Shubha R. Phadke</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26354221</idno><idno type="pmc">4613445</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613445</idno><idno type="RBID">PMC:4613445</idno><idno type="doi">10.4103/0971-5916.164262</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000222</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000222</idno><idno type="wicri:Area/Pmc/Curation">000222</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000222</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family</title><author><name sortKey="Dalal, Ashwin" sort="Dalal, Ashwin" uniqKey="Dalal A" first="Ashwin" last="Dalal">Ashwin Dalal</name><affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea></affiliation></author><author><name sortKey="Bhowmik, Aneek D" sort="Bhowmik, Aneek D" uniqKey="Bhowmik A" first="Aneek D" last="Bhowmik">Aneek D. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Indian J Med Res</journal-id><journal-id journal-id-type="iso-abbrev">Indian J. Med. Res</journal-id><journal-id journal-id-type="publisher-id">IJMR</journal-id><journal-title-group><journal-title>The Indian Journal of Medical Research</journal-title></journal-title-group><issn pub-type="ppub">0971-5916</issn><issn pub-type="epub">0975-9174</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26354221</article-id><article-id pub-id-type="pmc">4613445</article-id><article-id pub-id-type="publisher-id">IJMR-142-220</article-id><article-id pub-id-type="doi">10.4103/0971-5916.164262</article-id><article-categories><subj-group subj-group-type="heading"><subject>Correspondence</subject></subj-group></article-categories><title-group><article-title>Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Dalal</surname><given-names>Ashwin</given-names></name><xref ref-type="aff" rid="aff1">*</xref></contrib><contrib contrib-type="author"><name><surname>Bhowmik</surname><given-names>Aneek D</given-names></name><xref ref-type="aff" rid="aff1">*</xref></contrib><contrib contrib-type="author"><name><surname>Agarwal</surname><given-names>Divya</given-names></name><xref ref-type="aff" rid="aff2">**</xref></contrib><contrib contrib-type="author"><name><surname>Phadke</surname><given-names>Shubha R.</given-names></name><xref ref-type="aff" rid="aff2">**</xref><xref ref-type="corresp" rid="cor1">†</xref></contrib></contrib-group><aff id="aff1"><label>*</label>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</aff><aff id="aff2"><label>**</label>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</aff><author-notes><corresp id="cor1"><label>†</label><italic>For correspondence</italic>: <email xlink:href="shubharaophadke@gmail.com">shubharaophadke@gmail.com</email></corresp></author-notes><pub-date pub-type="ppub"><month>8</month><year>2015</year></pub-date><volume>142</volume><issue>2</issue><fpage>220</fpage><lpage>224</lpage><permissions><copyright-statement>Copyright: © Indian Journal of Medical Research</copyright-statement><copyright-year>2015</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms</license-p></license></permissions></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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