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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
2013 Impact Factor: 2.396
 
DOIhttp://dx.doi.org/10.1007/s00277-003-0803-1
 
ISI Accession Number IDWOS:000221038200008
 
ReferencesReferences in Scopus
 
DC FieldValue
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.hkuros88090
 
dc.identifier.isiWOS:000221038200008
 
dc.identifier.issn0939-5555
2013 Impact Factor: 2.396
 
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
 
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Author Affiliations
  1. The University of Hong Kong
  2. Queen Mary Hospital Hong Kong