ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
28		Type 2A	4517C>T	S1506L	?	Israel	Inbal
18	40	Type 3	Exon 18 deletion	?	?	Italy	Schneppenheim	1 index patient is heterozygous for Delta C in exon 18 (2,5 % of Italian VWD typ More ...
28		Type 2A	4942C>T	P1648S	?				Pietu et al, 1992
28		Type 2B	3946G>A	V1316M	?	US	Montgomery
28		Type 2A	4883T>C	I1628T	?			Also reported as polymorphism in French population.	Pietu et al, 1992
28		Type 2B	3946G>A	V1316M	?	Canada	Lillicrap	Germinal Mosaic	Lillicrap et al, 1991
28		Type 2A	4517C>T	S1506L	?		Daly
18	16	Type 3	Exon 18 deletion	?	?	Poland	Schneppenheim	4 index patients are homozygous for Delta C in exon 18, 4 index patients are het More ...
27	100	Type 2M	3614G>A	R1205H	?	Italy	Schneppenheim	Found also in one German patient and in a Chinese family with 3 affected members More ...	Schneppenheim et al, 2000
28		Type 2B	3946G>A	V1316M	?				Pietu et al, 1992

 

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