A Novel Mutation (G2172→C) in the Factor V Gene in a Chinese Family with Hereditary Activated Protein C Resistance
✍ Scribed by Huacong Cai; Baolai Hua; Liankai Fan; Qian Wang; Shujie Wang; Yongqiang Zhao
- Book ID
- 116914384
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 208 KB
- Volume
- 125
- Category
- Article
- ISSN
- 0049-3848
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To determine the prevalence of activated protein C resistance and the factor V Leiden mutation (position 1691, arginine 506 to glutamine substitution) in children with thrombosis, plasma samples from children with thrombosis were tested for activated protein C resistance. DNA was analyzed for the fa
Hereditary predisposition to thrombosis due to activated protein C resistance (APCR) has been attributed to a missense mutation in the factor V gene at nucleotide 1691 (G to A), causing replacement of arginine at codon 506 with glutamine. Using an RFLP-PCR assay to detect this mutation, we measured