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.
Jayandharan, G
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] - Journal of thrombosis and haemostasis : JTH Jul 2005 - 1482-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1538-7933
10.1111/j.1538-7836.2005.01339.x doi
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
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] - Journal of thrombosis and haemostasis : JTH Jul 2005 - 1482-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1538-7933
10.1111/j.1538-7836.2005.01339.x doi
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