Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.
Vysokovsky
A
A
Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University, Israel.
Saxena
R
R
Landau
M
M
Zivelin
A
A
Eskaraev
R
R
Rosenberg
N
N
Seligsohn
U
U
Inbal
A
A
D002384:Catalysis; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D019281:Dimerization; D005091:Exons; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D020125:Mutation, Missense; D017510:Protein Folding; D021122:Protein Subunits / Q000235:genetics; D017384:Sequence Deletion
D018389:Codon, Nonsense; D021122:Protein Subunits; D005176:Factor XIII