Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. [electronic resource]
Producer: 20050927Description: 1482-7 p. digitalISSN:- 1538-7933
- Arginine -- chemistry
- Codon, Nonsense
- CpG Islands
- DNA Mutational Analysis
- DNA Primers -- chemistry
- Epitopes -- chemistry
- Exons
- Factor Va -- chemistry
- Factor X -- genetics
- Factor X Deficiency -- diagnosis
- Frameshift Mutation
- Heterozygote
- Humans
- India
- Lysine -- chemistry
- Models, Genetic
- Models, Molecular
- Mutation
- Mutation, Missense
- Nepal
- Phenylalanine -- chemistry
- Serine -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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