ISTH VWF Database

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.
Same mutation	3	80	Type 3 (Type 1)	100C>G	R34G	No	Turkey	Peake	Heterozygotes for this mutation had a ty More ...
Same mutation	3	200	Type 3	100C>T	R34X	No	Spain	Vidal	Homozygous mutation.	Corrales et al., 2009
Same mutation	9		Type 2N	1071C>A	Y357X	No	France	Mazurier		Mazurier et al., 2002
Same mutation	9	108	Type 3	1093C>T	R365X	No	Iran / Italy	Federici / Mannucci	One patient (Iran) homozygous, and one ( More ...	Baronciani et al., 2003
Same mutation	9		Type 3	1093C>T	R365X	No	France	Meyer		Bahnak et al., 1991
Same mutation	9	206	Type 1	1109+2T>C	N/A	No	EU	MCMDM-1VWD	Mutation associated with a normal multim More ...	Goodeve et al., 2007
Same mutation	10	108	Type 3	1110-1G>A	N/A	No	Iran	Federici / Mannucci	Patient homozygous for the potential spl More ...	Baronciani et al., 2000
Same mutation	10	108	Type 3	1117C>T	R373X	No	India	Federici / Mannucci	Patient homozygous for the nonsense muta More ...	Baronciani et al., 2000
Same mutation	10	40	Type 3	1131G>T	W377C	?	Germany	Schneppenheim	Candidate missense mutation; the patient More ...	Schneppenheim et al., 1994
Same mutation	11		Type 2A	1212ins6 (AATCCC)	F404insNP	Yes	Sweden	Holmberg	Patient also compound heterozygote for a More ...	Holmberg et al, 1998