Same mutation
  Advanced search  
Search for:             Details found: 589
Page 1 of 30
Records Per Page:
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Type 3 (Type 1) 100C>G R34G No Turkey Peake Heterozygotes for this mutation had a ty More ...
Type 3 100C>T R34X No Spain Vidal Homozygous mutation.
Type 2N 1071C>A Y357X No France Mazurier
Type 3 1093C>T R365X No Iran / Italy Federici / Mannucci One patient (Iran) homozygous, and one ( More ...
Type 3 1093C>T R365X No France Meyer
Type 1 1109+2T>C N/A No EU MCMDM-1VWD Mutation associated with a normal multim More ...
Type 3 1110-1G>A N/A No Iran Federici / Mannucci Patient homozygous for the potential spl More ...
Type 3 1117C>T R373X No India Federici / Mannucci Patient homozygous for the nonsense muta More ...
Type 3 1131G>T W377C ? Germany Schneppenheim Candidate missense mutation; the patient More ...
Type 2A 1212ins6 (AATCCC) F404insNP Yes Sweden Holmberg Patient also compound heterozygote for a More ...
Type 3 1280T>A I427N No France Mazurier The propositus is homozygous for the mut More ...
Type 2A 1309_1326del D437_R442del Yes England Mazurier Patient heterozygous for this deletion. More ...
Type 2A 1309-1326del D437-R442del Yes USA Montgomery VWF from abnormal allele has no ristocet More ...
Type 3 139G>C D47H No Iran Federici / Mannucci Patient homozygous for the candidate mis More ...
Type 1 147C>A S49R No Turkey Peake Family was supplied by Dr. J. Ingerslev, More ...
Type 1 -1522del CATTGTTTCCTTT N/A No Canada Lillicrap
Type 1 -1522del CATTGTTTCCTTT N/A No EU MCMDM-1VWD 101 control samples were screened for th More ...
Type 1 1533+15G>A Not Determined No Spain Vidal
Type 1 1534-3C>A L512PfsX11 No EU MCMDM-1VWD Mutation associated with a normal multim More ...
Type 3 1534-3C>A L512PfsX11 No Italy Bertina / Eikenboom Acceptor slice site mutation 3' intron 1 More ...