A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A.
Xie
Y G
YG
Zheng
H
H
Leggo
J
J
Scully
M F
MF
Lillicrap
D
D
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D005169:Factor VIII / Q000737:chemistry / Q000235:genetics*; D018703:Founder Effect; D006467:Hemophilia A / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009523:Newfoundland and Labrador / Q000453:epidemiology; D017354:Point Mutation; D015995:Prevalence; D017510:Protein Folding; D017434:Protein Structure, Tertiary; D013329:Structure-Activity Relationship; D014960:X Chromosome / Q000235:genetics
D003062:Codon; D005169:Factor VIII