Article
Histidine-rich glycoprotein (HRG) Tokushima 2: novel HRG deficiency, molecular and cellular characterization.
Thrombosis and haemostasis - 1 Oct 2000
Shigekiyo T, Yoshida H, Kanagawa Y, Satoh K, Wakabayashi S, Matsumoto T, Koide T
Abstract excerpt
The proband, a 76-year-old woman, suffered from dural arteriovenous fistula. Her plasma histidine-rich glycoprotein (HRG) level was 50% of the normal level. A low level of plasma HRG was also found in her third daughter. A single nucleotide substitution of T to C was found at nucleotide position 11,438 in exon 6 of the HRG gene from the proband, converting Cys223 to Arg in the second cystatin-like domain. The...
Topics
- Aged
- Amino Acid Sequence
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Proteins
- Thrombosis
- Histidine-Rich Glycoprotein