Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

Journal of Dermatological Science

Volumn 56, Issue 1, 2009, Pages 62-64

  Nagy, Nikoletta ^a   Greaves, Malcolm W ^b,c   Tanaka, Akio ^a   McGrath, John A ^a   Grattan, Clive E ^c,d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b POOLE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Bradykinin; Coagulation factor XII; Genetic disease; Oedema; Skin

Indexed keywords

BLOOD CLOTTING FACTOR 12; LYSINE; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANGIONEUROTIC EDEMA; CASE REPORT; CONTROLLED STUDY; DISEASE ACTIVITY; DNA DETERMINATION; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LETTER; MISSENSE MUTATION; MOLECULAR GENETICS; ORAL CONTRACEPTION; POLYMERASE CHAIN REACTION; PREGNANCY; PRIORITY JOURNAL; UNITED KINGDOM;

AMINO ACID SUBSTITUTION; ANGIOEDEMA, HEREDITARY; COMPLEMENT C1 INACTIVATOR PROTEINS; EXONS; FACTOR XII; FEMALE; GREAT BRITAIN; HUMANS; KALLIKREINS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 69049111630     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.06.013     Document Type: Letter

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