ISTH mutations

Advanced search

Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

Details found: 589 Page 1 of 59

Records Per Page: 10 20 30 50 100 500

Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
Deletion Ex 17-18	6	Type 3	Not Determined	Null Allele	No	Turkey	Peake	Southern blotting suggests deletion ~8.5 kb in size, the breakpoints occurring i More ...
Deletion exons 22-43	6	Type 3	Not Determined	Null Allele	No	USA	Sadler	Deletion associated with inhibitory antibody formation to VWF.	Mancuso et al., 1994
Deletion Ex 23-52	108	Type 3	Not Determined	Null Allele	No	India	Federici / Mannucci	Deletion associated with inhibitory antibody formation to VWF.	Baronciani et al., 2000
Deletion Ex ?	4	Type 3	Not Determined	Null Allele	No	Germany	Schneppenheim	The patient was heterozygous for a partial deletion of VWF, however the exact si More ...	Schneppenheim et al., 1994
18	16	Type 3	Exon 18 deletion	?	?	Poland	Schneppenheim	4 index patients are homozygous for Delta C in exon 18, 4 index patients are het More ...
18	40	Type 3	Exon 18 deletion	?	?	Italy	Schneppenheim	1 index patient is heterozygous for Delta C in exon 18 (2,5 % of Italian VWD typ More ...
8	8	Type 3	988dupA	S330KfsX4	No	Netherlands	van Heerde	Homozygous mutation in two brothers (VWF:RCo <5%, VWF:Ag <5%, VWF:CB <5%, FVIII: More ...
8	4	Type 1	971G>A	R324Q	No	Turkey	Peake	Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.
8		Type 3	970C>T	R324X	?	Germany	Schneppenheim	Nonsense mutation in the prosequence; recessive inheritance.	Schneppenheim et al., 1994
8	6	Type 3	893_894insG	M299YfsX4	No	China	Hongli Wang	Mutation found in a heterozygous state in conjunction with mutation Y1456X.	Xie et al., 2007