A G+3-to-T Donor Splice Site Mutation Leads to Skipping of Exon 50 in Von Willebrand Factor mRNA

Genomics ◽  
1994 ◽  
Vol 24 (1) ◽  
pp. 190-191 ◽  
Author(s):  
G. Mertes ◽  
M. Ludwig ◽  
B. Finkelnburg ◽  
M. Krawczak ◽  
R. Schwaab ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Von Willebrand ◽  
Willebrand Factor

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

scholarly journals A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome

2010 ◽  
Vol 90 (1) ◽  
pp. 95-96 ◽  
Author(s):  
B Tüysüz ◽  
D Ojalvo ◽  
C Mat ◽  
G Zambruno ◽  
C Covaciu ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Netherton Syndrome ◽  
Donor Splice

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Genomics ◽  
1988 ◽  
Vol 2 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Hagop Youssoufian ◽  
Haig H. Kazazian ◽  
Achyut Patel ◽  
Sophia Aronis ◽  
George Tsiftis ◽  
...  
Keyword(s):  
Factor Viii ◽  
Splice Site ◽  
Hemophilia A ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Factor Viii Gene ◽  
Site Mutation ◽  
Donor Splice ◽  
Intron 4

A Common Splice Site Mutation Is Shared by Two Families with Different Type 2N von Willebrand Disease Mutations

1999 ◽  
Vol 82 (09) ◽  
pp. 1061-1064 ◽  
Author(s):  
Kingsley Hampton ◽  
F. Eric Preston ◽  
Ian Peake ◽  
Anne Goodeve ◽  
I. Mandy Nesbitt
Keyword(s):  
Splice Site ◽  
Direct Sequencing ◽  
Splice Site Mutation ◽  
Von Willebrand Disease ◽  
The Other ◽  
Compound Heterozygous ◽  
Site Mutation ◽  
Disease Mutations ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryUsing an ELISA-based method to detect type 2N von Willebrand disease (VWD), we found two individuals with absent FVIII binding. Direct sequencing of the FVIII binding region of the von Willebrand factor (VWF) gene showed that one individual had an R854Q substitution whilst the other had a T791M substitution. The very low FVIII binding and the VWF:Ag levels in both individuals suggested a second defect on the other VWF allele. Conformation sensitive gel electrophoresis of polymerase chain reaction amplified DNA was used to detect an additional change in the VWF gene of each patient. Direct sequencing confirmed a previously unreported G to A transition in the donor splice site in intron 25 of both individuals which should result in a null allele. This was confirmed by mRNA analysis. These two individuals therefore have compound heterozygous VWD in which the only expressed allele has a type 2N mutation. In our population, such compound heterozygosity appears to be a significant cause of type 2N VWD.

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