ISTH mutations

Back to Master table   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: 5 Page 1 of 1

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.
28		Type 2M	3835G>A	V1279I	Yes	France	French Network
28		Type 1	3835G>A	V1279I	No	Netherlands	Bertina	Patients heterozygous, second allele no expression at mRNA level. Mutations corr More ...	Eikenboom et al, 1993
28	2	Type 2M	3835G>A	V1279I	Yes	USA	Montgomery	Present on same allele as 3797C>A. Previously listed as a type 2B mutation.
28	28	Type 1	3835G>A	V1279I	No	Canada	Lillicrap	Occurred with a frequency of 0.4 in unaffected family members. Occurred on the s More ...	James et al., 2007
28	200	Type 3	3835G>A	V1279I	No	Pakistan	Vidal	Identified as part of a homozygous gene conversion event in conjunction with mut More ...	Corrales et al., 2009