Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency
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منابع مشابه
Jaundice and factor VII deficiency in newborn
Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...
متن کاملFactor VII gene intronic mutation in a lethal Factor VII deficiency: effects on splice-site selection Short title Splicing at cryptic site in lethal FVII deficiency Authors
In a patient with lethal Factor (F) VII deficiency, two homozygous nucleotide substitutions were identified in the FVII 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 (R224Q). The mutated splice site, located within the first repeat of a minisatellite, is followed by a variable number of p...
متن کاملFactor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
Coagulation factors belong to a family of plasma glycosylated proteins that should be activated for appropriate blood coagulation. Congenital deficiencies of these factors cause inheritable hemorrhagic diseases. Factor VII (FVII) deficiency is a rare bleeding disorder with variable clinical symptoms. Various mutations have been identified throughout the F7 gene and can affect all the protein do...
متن کاملMolecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.
In three Italian patients, two point mutations and a short deletion were found in the intron 7 of factor VII gene, clustered in the donor splice site and located in the first of several repeats. The mutation 9726+5G-->A, the most frequent cause of symptomatic factor VII deficiency in Italy, as well as the deletion (9729del4) gave rise in expression studies to abnormally spliced transcripts, whi...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2007
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2007.06660.x