title: Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor.
authors.affiliation: Department of Dermatology, Johannes Gutenberg University, Mainz, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Bork
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: J
authors.initials: J
authors.lastname: Hardt
authors.forename: G
authors.initials: G
authors.lastname: Witzke
authors.forename: P
authors.initials: P
authors.lastname: Lohse
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D050718:Complement C1 Inhibitor Protein / Q000378:metabolism*; D005091:Exons; D005174:Factor XII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014421:Turkey; D055815:Young Adult
chemical_list: D050718:Complement C1 Inhibitor Protein; D005174:Factor XII
keywords: F12 gene; coagulation factor XII; deletion; hereditary angioedema; mRNA analysis; normal C1 inhibitor