Severe Factor VII Deficiency Due to a Mutation Disrupting a Hepatocyte Nuclear Factor 4 Binding Site in the Factor VII Promoter
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منابع مشابه
Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter.
Although small deletions, splice site abnormalities, missense, and nonsense mutations have been identified in patients with factor VII deficiency, there have been no reports of mutations in the factor VII promoter. We investigated a girl with factor VII levels that were less than 1% of normal in association with a severe bleeding diathesis. The patient is homozygous for a T to G transversion th...
متن کاملSevere factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter.
We have identified a point mutation in the promoter of the factor VII gene responsible for a severe bleeding disorder in a patient from a large French-Canadian family with known consanguinity. The proband has an extremely low plasma level of factor VII antigen and factor VII coagulant activity (<1 percent of normal) and suffers from hemarthroses and chronic arthropathy. Sequencing of the patien...
متن کاملJosephine A . Carew , Eleanor S . Pollak , Katherine A . High and Kenneth A . Bauer Site in the Factor VII Promoter Severe Factor VII Deficiency Due to a Mutation Disrupting
http://bloodjournal.hematologylibrary.org/content/92/5/1639.full.html Updated information and services can be found at: (2497 articles) Hemostasis, Thrombosis, and Vascular Biology Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests Information about reproducing this article in parts or in ...
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In a patient with lethal factor VII (FVII) deficiency, 2 homozygous nucleotide substitutions were identified in the F7 gene: a IVS7+2T>G transversion involving the IVS7 donor splice site, followed by a mutation at nucleotide 10588 that would result in a missense variation (Arg224Gln). The mutated splice site, located within the first repeat of a minisatellite, is followed by a variable number o...
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ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v89.1.176