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Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

dc.contributor.authorZhang, B.en_US
dc.contributor.authorGinsburg, David W.en_US
dc.date.accessioned2010-06-01T21:28:18Z
dc.date.available2010-06-01T21:28:18Z
dc.date.issued2004-09en_US
dc.identifier.citationZhang, B.; Ginsburg, D. (2004). "Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders." Journal of Thrombosis and Haemostasis 2(9): 1564-1572. <http://hdl.handle.net/2027.42/74529>en_US
dc.identifier.issn1538-7933en_US
dc.identifier.issn1538-7836en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/74529
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15333032&dopt=citationen_US
dc.description.abstract Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. Recently, significant progress has been made in understanding the molecular mechanisms underlying these disorders. F5F8D is caused by mutations in two different genes ( LMAN1 and MCFD2 ) that encode components of a stable protein complex. This complex is localized to the secretory pathway of the cell and likely functions in transporting newly synthesized FV and FVIII, and perhaps other proteins, from the ER to the Golgi. VKCFD is either caused by mutations in the γ-carboxylase gene or in a recently identified gene encoding the vitamin K epoxide reductase. These two proteins are essential components of the vitamin K dependent carboxylation reaction. Deficiency in either protein leads to under-carboxylation and reduced activities of all the vitamin K-dependent coagulation factors, as well as several other proteins. The multiple coagulation factor deficiencies provide a notable example of important basic biological insight gained through the study of rare human diseases.en_US
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dc.publisherBlackwell Science Incen_US
dc.rights2004 International Society on Thrombosis and Haemostasisen_US
dc.subject.otherγ-Carboxylationen_US
dc.subject.otherERen_US
dc.subject.otherGolgien_US
dc.subject.otherFactor Ven_US
dc.subject.otherFactor VIIIen_US
dc.subject.otherVitamin Ken_US
dc.titleFamilial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disordersen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.identifier.pmid15333032en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/74529/1/j.1538-7836.2004.00857.x.pdf
dc.identifier.doi10.1111/j.1538-7836.2004.00857.xen_US
dc.identifier.sourceJournal of Thrombosis and Haemostasisen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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