Article: Two novel factor X gene mutations in a Chinese family with factor X deficiency

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TitleTwo novel factor X gene mutations in a Chinese family with factor X deficiency
AuthorsAu, WY1
Lam, CCK2
Cheung, WC1
Kwong, YL1
Issue Date2004
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00277/index.htm
CitationAnnals Of Hematology, 2004, v. 83 n. 5, p. 304-306 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00277-003-0803-1
AbstractWe report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237→C mutation, leading to Phe71→Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71→Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71→Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability. © Springer-Verlag 2003.
ISSN0939-5555
2011 Impact Factor: 2.615
2011 SCImago Journal Rankings: 0.306
DOIhttp://dx.doi.org/10.1007/s00277-003-0803-1
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorAu, WY
dc.contributor.authorLam, CCK
dc.contributor.authorCheung, WC
dc.contributor.authorKwong, YL
dc.date.accessioned2012-09-05T05:24:37Z
dc.date.available2012-09-05T05:24:37Z
dc.date.issued2004
dc.description.abstractWe report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237→C mutation, leading to Phe71→Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71→Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71→Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability. © Springer-Verlag 2003.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationAnnals Of Hematology, 2004, v. 83 n. 5, p. 304-306 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00277-003-0803-1
dc.identifier.doihttp://dx.doi.org/10.1007/s00277-003-0803-1
dc.identifier.epage306
dc.identifier.issn0939-5555
2011 Impact Factor: 2.615
2011 SCImago Journal Rankings: 0.306
dc.identifier.issue5
dc.identifier.pmid15060750
dc.identifier.scopuseid_2-s2.0-2342594502
dc.identifier.spage304
dc.identifier.urihttp://hdl.handle.net/10722/162872
dc.identifier.volume83
dc.languageeng
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00277/index.htm
dc.publisher.placeGermany
dc.relation.ispartofAnnals of Hematology
dc.relation.referencesReferences in Scopus
dc.subject.meshAdult
dc.subject.meshAmino Acid Substitution
dc.subject.meshAsian Continental Ancestry Group - Genetics
dc.subject.meshBase Sequence
dc.subject.meshBlood Coagulation Tests
dc.subject.meshCytosine
dc.subject.meshFactor X - Genetics
dc.subject.meshFactor X Deficiency - Genetics
dc.subject.meshFemale
dc.subject.meshGene Deletion
dc.subject.meshGuanine
dc.subject.meshHeterozygote
dc.subject.meshHumans
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshPhenylalanine
dc.subject.meshSerine
dc.titleTwo novel factor X gene mutations in a Chinese family with factor X deficiency
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong
  2. Queen Mary Hospital Hong Kong