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	108	Type 3	3931C>T	Q1311X	No	Iran	Federici/Mannucci	Patient homozygous for the nonsense mutation and of consanguineous descent.	Baronciani et al, 2003
28	140	Type 3	3931C>T	Q1311X	No	Spain	Casana		Casaņa P et al, 2000
28	200	Type 3	3931C>T	Q1311X	No	Pakistan	Vidal	Identified as part of a homozygous gene conversion event in conjunction with mut More ...	Corrales et al., 2009
28	200	Type 3	3931C>T	Q1311X	No	Spain	Vidal	Homozygous mutation identified in three patients. Average VWF:Ag 6.7%, VWF:RCo 8 More ...