Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain

Molecular Immunology

Volumn 71, Issue , 2016, Pages 123-130

  Jaradat, Saied A ^a   Caccia, Sonia ^b   Rawashdeh, Rifaat ^a   Melhem, Motasem ^a   Al Hawamdeh, Ali ^c   Carzaniga, Thomas ^b   Haddad, Hazem ^a  

^a JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^b UNIVERSITY OF MILAN   (Italy)

^c KING HUSSEIN MEDICAL CENTER   (Jordan)

Author keywords

C1 inhibitor; Hereditary angioedema; Jordan; N terminal domain; SERPING1 gene

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; DANAZOL; GENOMIC DNA; SERINE PROTEINASE INHIBITOR; SERPING1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANGIONEUROTIC EDEMA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEMENT SYSTEM; COMPUTER MODEL; DNA EXTRACTION; FAMILY STUDY; FEMALE; GENE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; JORDANIAN; LABORATORY TEST; MALE; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; PROPHYLAXIS; PROTEIN ISOLATION; SERPING1 GENE; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; JORDAN; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING; YOUNG ADULT;

ADOLESCENT; ADULT; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; COMPLEMENT C1 INACTIVATOR PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEREDITARY ANGIOEDEMA TYPES I AND II; HUMANS; JORDAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84958248189     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2016.02.001     Document Type: Article

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