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	18	40	Type 3	Exon 18 deletion	?	?	Italy	Schneppenheim	1 index patient is heterozygous for Delt More ...
Same mutation	18	16	Type 3	Exon 18 deletion	?	?	Poland	Schneppenheim	4 index patients are homozygous for Delt More ...
Same mutation	28	108	Type 3	4092delAC	1364 frameshift to terminus	No	India	Federici/Mannucci	Patient compound heterozygous with mutat More ...	Baronciani et al, 2003
Same mutation	28	108	Type 3	4414insC	1472 frameshift to terminus	No	India	Federici/Mannucci	Patient compound heterozygous with mutat More ...	Baronciani et al, 2003
Same mutation	28		Type 3	4635delG	1545 frameshift to terminus	No	Germany	Schneppenheim		Schneppenheim et al., 1994
Same mutation	28	2	Type 1	4637-4645del9	1546-1548del3	No	Canada	Lillicrap		James et al., 2007
Same mutation	28		Type 3	4886delG	1629 frameshift to terminus	?	Germany	Schneppenheim	Patient was heterozygous.	Schneppenheim et al, 1994
Same mutation	28		Type 3	4971insC	1657 frameshift to terminus	No	Sweden		1 heterozygous patient in 1 type 3 famil More ...	Zhang et al., 1994
Same mutation	36	108	Type 3	6182delT	2061 frameshift to terminus	No	Italy	Federici/Mannucci	Patient homozygous for the deletion and More ...	Baronciani et al, 2000
Same mutation	42	108	Type 3	7130insC	2377 frameshift to terminus	No	India	Federici/Mannucci	Two patients homozygous for the insertio More ...	Baronciani et al, 2003