Article
A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies.
Blood - 1 May 1997
Gu J, Jorieux S, Lavergne J M, Ruan C, Mazurier C, Meyer D
Abstract excerpt
We report the case of a Chinese patient who has subnormal von Willebrand factor (vWF) level and normal vWF multimeric pattern, but a lack of vWF capacity to bind factor VIII (FVIII). Exons 18 to 20 of the patient's vWF gene were analyzed by DGGE and a G2354 --> A substitution which changes the en...
Topics
- Adult
- Aged
- Alleles
- Animals
- Antibodies, Monoclonal
- COS Cells
- DNA Primers
- Exons
- Female
- Genetic Carrier Screening
- Glutamic Acid
- Glycine
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation