Homozygous hereditary C3 deficiency due to a premature stop codon

Journal of Clinical Immunology

Volumn 22, Issue 6, 2002, Pages 321-330

  Reis, Edimara Da Silva ^a   Baracho, Gisele Vanessa ^a   Lima, Adriana Sousa ^a   Farah, Chuck S ^a   Isaac, Lourdes ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Complement; Complement C3; Immunodeficiency; Nonsense mediated decay

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPLEMENT COMPONENET C3 DEFICIENCY; COMPLEMENT DISORDER; DNA SEQUENCE; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENT INFECTION; STOP CODON; ADOLESCENT; CELL CULTURE; COMPARATIVE STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FIBROBLAST; GENETICS; HOMOZYGOTE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SECRETION;

ADOLESCENT; CELLS, CULTURED; CODON, NONSENSE; COMPLEMENT C3; DNA, COMPLEMENTARY; ENZYME-LINKED IMMUNOSORBENT ASSAY; FIBROBLASTS; HOMOZYGOTE; HUMANS; MALE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0036847293     PISSN: 02719142     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020665614139     Document Type: Article

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