Literature summary for 3.4.21.38 extracted from

Lombardi, A.M.; Bortoletto, E.; Scarparo, P.; Scapin, M.; Santarossa, L.; Girolami, A.
Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes (2008), Blood Coagul. Fibrinolysis, 19, 639-643.

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Protein Variants

Protein Variants	Comment	Organism
additional information	the -13C>T gene mutation in the promoter is associated with factor XII deficiency	Homo sapiens
P547L	the mutation is associated with factor XII deficiency	Homo sapiens
Q501T	the mutation is associated with factor XII deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
factor XII	-	Homo sapiens
FXII	-	Homo sapiens

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Release 2023.1 (January 2023)