Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).
Jayandharan
G
G
Shaji
R V
RV
Nair
S C
SC
Chandy
M
M
Srivastava
A
A
D002648:Child; D003062:Codon; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005164:Factor IX / Q000235:genetics*; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005838:Genotype; D002836:Hemophilia B / Q000235:genetics*; D006470:Hemorrhage; D006801:Humans; D007438:Introns; D007930:Leucine / Q000737:chemistry; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D010649:Phenylalanine / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012694:Serine / Q000737:chemistry; D014443:Tyrosine / Q000737:chemistry; D014633:Valine / Q000737:chemistry
D003062:Codon; D017931:DNA Primers; D014443:Tyrosine; D012694:Serine; D010649:Phenylalanine; D005164:Factor IX; D005172:Factor XI; D007930:Leucine; D014633:Valine