ISTH VWF Database

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	Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
Same mutation	Deletion Ex 17-18	6	Type 3	Not Determined	Null Allele	No	Turkey	Peake	Southern blotting suggests deletion ~8.5 More ...
Same mutation	Deletion exons 22-43	6	Type 3	Not Determined	Null Allele	No	USA	Sadler	Deletion associated with inhibitory anti More ...	Mancuso et al., 1994
Same mutation	Deletion Ex 23-52	108	Type 3	Not Determined	Null Allele	No	India	Federici / Mannucci	Deletion associated with inhibitory anti More ...	Baronciani et al., 2000
Same mutation	Deletion Ex ?	4	Type 3	Not Determined	Null Allele	No	Germany	Schneppenheim	The patient was heterozygous for a parti More ...	Schneppenheim et al., 1994
Same mutation	18	16	Type 3	Exon 18 deletion	?	?	Poland	Schneppenheim	4 index patients are homozygous for Delt More ...
Same mutation	18	40	Type 3	Exon 18 deletion	?	?	Italy	Schneppenheim	1 index patient is heterozygous for Delt More ...
Same mutation	8	8	Type 3	988dupA	S330KfsX4	No	Netherlands	van Heerde	Homozygous mutation in two brothers (VWF More ...
Same mutation	8	4	Type 1	971G>A	R324Q	No	Turkey	Peake	Family was supplied by Dr. J. Ingerslev, More ...
Same mutation	8		Type 3	970C>T	R324X	?	Germany	Schneppenheim	Nonsense mutation in the prosequence; re More ...	Schneppenheim et al., 1994
Same mutation	8	6	Type 3	893_894insG	M299YfsX4	No	China	Hongli Wang	Mutation found in a heterozygous state i More ...	Xie et al., 2007