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.
27	124	Type 1	3614G>A	R1205H	No	Spain	Casana	Mutation identified in five unrelated families. It was linked to the different h More ...
28	22	Type 1	4808T>C	L1603P	No	Turkey	Berber	VWF:Ag=14.5IU/dl, VWF:RCo=7IU/dl, FVIII:C=43IU/dl.
28		Type 2A	4790G>T	R1597L	No	France	French Network
28	100	Type 2A	4790G>A	R1597Q	No	France	Meyer	Presented by Lavergne et al, at the ISTH meeting, 1991.
28		Type 2A	4790G>A	R1597Q	No		Meyer
28		Type 2A	4790G>A	R1597Q	No		Sixma
27	6	Type 2M / Type 3	3586T>C	C1196R	No	UK		Two patients heterozygous for the mutation were diagnosed with type 2M VWD, wher More ...
28		Type 2A	4789C>T	R1597W	?	Japan	Saito
28		Type 2A	4789C>T	R1597W	?	England	Peake
28		Type 2A	4789C>T	R1597W	?		Sixma