Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 67, Issue 11, 2012, Pages 1430-1436

  Xu, Y Y ^a   Zhi, Y X ^a   Yin, J ^a   Wang, L L ^a   Wen, L P ^a   Gu, J Q ^a   Guan, K ^a   Craig, T ^b   Zhang, H Y ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

C1 inhibitor; gene mutation; genotype; hereditary angioedema; phenotype

Indexed keywords

ARGININE; COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C4;

AMINO ACID SEQUENCE; ANGIONEUROTIC EDEMA; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNODIFFUSION; INTRON; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; SYMPTOM;

ANGIOEDEMAS, HEREDITARY; ASIAN CONTINENTAL ANCESTRY GROUP; COMPLEMENT C1 INHIBITOR PROTEIN; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84867495216     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/all.12024     Document Type: Article

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