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Granted Patent: PHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon
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TitlePHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon
 
Granted PatentUS 7198898
 
Granted Date2007-04-03
 
Priority Date2003-04-07 US 10/408501
2002-04-08 US 10/370968P
 
InventorsGarcia-Barcelo, MM
Sham, MH
Tam, PKH
Lui, VCH
Chen, BLS
 
Issue Date2007
 
CitationUS Patent 7198898. Washington, DC: US Patent and Trademark Office (USPTO), 2007 [How to Cite?]
 
AbstractThe Invention Relates Generally To Polymorphisms Or Mutations Of The Phox2b Gene. More Particularly, The Invention Relates To Polymorphisms Or Mutations Of The Phox2b Gene That Are Responsible For The Disease Hirschsprung's Disease (Hscr), Which Is A Neural Crest-Associated Developmental Disorder. Specifically, The Invention Relates To The Detection Of A Single Base-Pair Polymorphism In The Phox2b Gene That Is Associated With Hscr. The Invention Also Relates To Methods And Kits For Screening For Carriers Of Mutations Of The Phox2b Gene And The Diagnosis Of Increased Risk Of Hscr. The Invention Further Relates To Diagnosing Predisposition Or Susceptibility To Increased Risk Of Developing Hscr By Screening For The Presence Of A Polymorphism Associated With Hscr.; The Invention Also Relates To Compositions For Screening For The Polymorphism And Treatment Choices For Patients Having The Polymorphism Of The Present Invention. The Invention Further Relates To Providing Polymorphisms In The Phox2b Gene For Forensic Use And In Paternity Test. The Invention Also Relates To Screening Assays And Therapeutic And Prophylactic Methods.
 
DC FieldValue
dc.contributor.inventorGarcia-Barcelo, MM
 
dc.contributor.inventorSham, MH
 
dc.contributor.inventorTam, PKH
 
dc.contributor.inventorLui, VCH
 
dc.contributor.inventorChen, BLS
 
dc.date.accessioned2011-10-19T06:29:15Z
 
patents.date.application2003-04-07
 
dc.date.available2011-10-19T06:29:15Z
 
patents.date.granted2007-04-03
 
dc.date.issued2007
 
patents.date.priority2003-04-07 US 10/408501
 
patents.date.priority2002-04-08 US 10/370968P
 
patents.date.publication2003-12-04
 
dc.description.abstractThe Invention Relates Generally To Polymorphisms Or Mutations Of The Phox2b Gene. More Particularly, The Invention Relates To Polymorphisms Or Mutations Of The Phox2b Gene That Are Responsible For The Disease Hirschsprung's Disease (Hscr), Which Is A Neural Crest-Associated Developmental Disorder. Specifically, The Invention Relates To The Detection Of A Single Base-Pair Polymorphism In The Phox2b Gene That Is Associated With Hscr. The Invention Also Relates To Methods And Kits For Screening For Carriers Of Mutations Of The Phox2b Gene And The Diagnosis Of Increased Risk Of Hscr. The Invention Further Relates To Diagnosing Predisposition Or Susceptibility To Increased Risk Of Developing Hscr By Screening For The Presence Of A Polymorphism Associated With Hscr.; The Invention Also Relates To Compositions For Screening For The Polymorphism And Treatment Choices For Patients Having The Polymorphism Of The Present Invention. The Invention Further Relates To Providing Polymorphisms In The Phox2b Gene For Forensic Use And In Paternity Test. The Invention Also Relates To Screening Assays And Therapeutic And Prophylactic Methods.
 
patents.description.assigneeUniv Hong Kong [Hk]
 
patents.description.ccUS
 
patents.description.countryUnited States of America
 
patents.description.kindB2
 
dc.description.naturepublished_or_final_version
 
patents.identifier.applicationUS 10/408501
 
dc.identifier.citationUS Patent 7198898. Washington, DC: US Patent and Trademark Office (USPTO), 2007 [How to Cite?]
 
patents.identifier.grantedUS 7198898
 
dc.identifier.hkuros187747
 
dc.identifier.hkuros187748
 
patents.identifier.hkutechidSurg-2002-00076
 
patents.identifier.publicationUS 20030224424
 
dc.identifier.urihttp://hdl.handle.net/10722/142076
 
patents.relation.familyAU 2003218601 (A1) 2003-10-27
 
patents.relation.familyUS 2003224424 (A1) 2003-12-04
 
patents.relation.familyUS 7198898 (B2) 2007-04-03
 
patents.relation.familyWO 03087359 (A1) 2003-10-23
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License For Public Patent Documents
 
dc.titlePHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon
 
dc.typePatent
 
patents.typePatent_granted
 
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<description.abstract>The Invention Relates Generally To Polymorphisms Or Mutations Of The Phox2b Gene. More Particularly, The Invention Relates To Polymorphisms Or Mutations Of The Phox2b Gene That Are Responsible For The Disease Hirschsprung&apos;s Disease (Hscr), Which Is A Neural Crest-Associated Developmental Disorder. Specifically, The Invention Relates To The Detection Of A Single Base-Pair Polymorphism In The Phox2b Gene That Is Associated With Hscr. The Invention Also Relates To Methods And Kits For Screening For Carriers Of Mutations Of The Phox2b Gene And The Diagnosis Of Increased Risk Of Hscr. The Invention Further Relates To Diagnosing Predisposition Or Susceptibility To Increased Risk Of Developing Hscr By Screening For The Presence Of A Polymorphism Associated With Hscr.; The Invention Also Relates To Compositions For Screening For The Polymorphism And Treatment Choices For Patients Having The Polymorphism Of The Present Invention. The Invention Further Relates To Providing Polymorphisms In The Phox2b Gene For Forensic Use And In Paternity Test. The Invention Also Relates To Screening Assays And Therapeutic And Prophylactic Methods.</description.abstract>
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