2005
DOI: 10.1111/j.1538-7836.2005.01140.x
|View full text |Cite
|
Sign up to set email alerts
|

Abstract: These findings exclude mutations that could be located deep in the introns and affecting either normal splicing or lead to mechanisms causing some unknown rearrangements of the FVIII gene. In fact, our results point to the presence of still unknown factor(s) causing HA, which might be either allelic or in the close proximity of the FVIII gene or non-allelic associated with other genetic loci that are involved in the processing of the FVIII protein.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

7
91
0

Year Published

2005
2005
2021
2021

Publication Types

Select...
7
2

Relationship

0
9

Authors

Journals

citations
Cited by 78 publications
(98 citation statements)
references
References 34 publications
7
91
0
Order By: Relevance
“…In keeping with a recent report [24], we detected mutations in 82% of mild hemophilia patients, a figure substantially lower than that reported for patients with severe hemophilia A [14]. Several factors may explain this lower efficiency, such as unrecognized type 2N VWD, which however was excluded in our patients, the presence of deep intronic F8 mutations or the effect of genes other than F8 in reducing FVIII.…”
Section: Molecular Determinants Of the Fviii Response To Desmopressinsupporting
confidence: 80%
“…In keeping with a recent report [24], we detected mutations in 82% of mild hemophilia patients, a figure substantially lower than that reported for patients with severe hemophilia A [14]. Several factors may explain this lower efficiency, such as unrecognized type 2N VWD, which however was excluded in our patients, the presence of deep intronic F8 mutations or the effect of genes other than F8 in reducing FVIII.…”
Section: Molecular Determinants Of the Fviii Response To Desmopressinsupporting
confidence: 80%
“…Although direct sequencing is a useful method for detection of sequence variation, it has been reported that the method is unable to detect certain gross exon deletions (El-Maarri et al, 2005). For this reason, investigation for gross exon deletion is needed for F8 mutation profiling before sequence analysis can be carried out.…”
Section: Identification Of Exon Deletion By Multiplex-pcr Methodsmentioning
confidence: 99%
“…These primers contain approximately 20 nucleotides of intronic sequences flanking each exon. The mRNA sequence of F8 was used for the detection of mutations at splicing sites because certain splicing site mutations are not detected when genomic DNA material is used (Chao et al, 2003;El-Maarri et al, 2005). Conformational sensitive gel electrophoresis (CSGE) or denaturing gradient gel electrophoresis (DGGE) is applied for the detection of mutations with single or larger base mismatches (Korkko et al, 1998).…”
Section: Direct Sequencing Analysismentioning
confidence: 99%
“…Detailed analysis of cDNA by reverse transcriptase PCR (RT-PCR) represents a powerful tool for searching causative splicing mutations or gene rearrangements. This strategy is applied with disease-related genes in patients who do not show mutations in the coding regions at the DNA level [9,10]. The same strategy was previously applied as the first-line mutation screening method for the F8 and F9 genes [11][12][13].…”
Section: Detailed Mrna Studymentioning
confidence: 99%