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A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A.
https://arctichealth.org/en/permalink/ahliterature191485
Source
Thromb Haemost. 2002 Jan;87(1):178-9
Publication Type
Article
Date
Jan-2002
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Author
Y G Xie
H. Zheng
J. Leggo
M F Scully
D. Lillicrap
Source
Thromb Haemost. 2002 Jan;87(1):178-9
Date
Jan-2002
Language
English
Publication Type
Article
Keywords
Amino Acid Substitution
Codon - genetics
Exons - genetics
Factor VIII - chemistry - genetics
Founder Effect
Hemophilia A - epidemiology - genetics
Humans
Male
Mutation, Missense
Newfoundland and Labrador - epidemiology
Point Mutation
Prevalence
Protein Folding
Protein Structure, Tertiary
Structure-Activity Relationship
X Chromosome - genetics
PubMed ID
11848452
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