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 2A	4789C>G	R1597G	Yes				Donner et al, 1993
28		Type 2B	4022G>A	R1341Q	No		Sixma, Mazurier
28		Type 2A	4790G>A	R1597Q	No		Meyer
45		Type 3	7636A>T	N2546Y	No			Patients are homozygous and of consanguineous descent; affected allele is not ex More ...	Eikenboom et al, 1991; Eikenboom et al, 1992
28		Type 2A	4790G>A	R1597Q	No		Sixma
28	100	Type 2A	4789C>T	R1597W	No				Inbal et al, 1992
28	100	Type 2A	4789C>T	R1597W	?				Sugiura et al, 1992
28		Type 2A	4789C>T	R1597W	?		Sixma
45		Type 3	7603C>T	R2535X	No			Patients are heterozygous; all 3 alleles have identical haplotypes; affected all More ...	Eikenboom et al, 1991; Eikenboom et al, 1992
18		Type 2N	2372C>T	T791M	Yes