ISTH mutations

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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

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28		Type 2B	3946G>A	V1316M	?				Pietu et al, 1992
50		Type 3	8155+3G>T	Skipping of Exon 50	Yes	Germany			Mertes et al., 1994
28	100	Type 2B	4382C>T	A1461V	Yes				Hilbert et al, 1995a
28	20	Unclassified	4105T>A	F1369I	No			Normal multimers, decreased ristocetin cofactor activity.	Mancuso et al, 1991
43	2	Unclassified	7390C>T	R2464C	Yes	England		Mutation associated with an abnormal multimer pattern. Due to this the authors b More ...	Lester et al., 2007
28		Type 2B	4022G>C	R1341P	No
28		Type 2B	4022G>A	R1341Q	?				Piao et al, 1993
28		Type 2B	4022G>A	R1341Q	No				Murray et al, 1991
28		Type 2B	4022G>A	R1341Q	Yes				Randi et al, 1991; Randi et al, 1992
28		Type 2B	4022G>A	R1341Q	No