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: 1 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.
5	200	Type 3	375_376delGTinsC	Y126TfsX49	No	Spain	Vidal	Homozygous mutation inherited in cis with variants c.4146G>T and c.6197A>G.	Corrales et al., 2009