Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Rijavec, Matija ^a   Korošec, Peter ^a   Šilar, Mira ^a   Zidarn, Mihaela ^a   Miljković, Jovan ^b   Košnik, Mitja ^a  

^a UNIVERSITY CLINIC OF RESPIRATORY AND ALLERGIC DISEASES   (Slovenia)

^b UNIVERSITY MEDICAL CENTRE MARIBOR   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANGIONEUROTIC EDEMA; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FAMILY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HEALTH SURVEY; HUMAN; INTRON; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROMOTER REGION; SERPING1 GENE; SLOVENIA;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; COMPLEMENT C1 INACTIVATOR PROTEINS; EXONS; FEMALE; FRAMESHIFT MUTATION; HEREDITARY ANGIOEDEMA TYPES I AND II; HUMANS; MALE; MIDDLE AGED; SEQUENCE DELETION; SLOVENIA;

EID: 84874250712     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0056712     Document Type: Article

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