Hereditary complement C7 deficiency in nine families: Subtotal C7 deficiency revisited

European Journal of Immunology

Volumn 37, Issue 5, 2007, Pages 1377-1385

  Rameix Welti, Marie Anne ^a   Régnier, Catherine H ^b   Bienaimé, Frank ^b   Blouin, Jacques ^a   Schifferli, Jurg ^c   Fridman, Wolf H ^a,b   Sautès Fridman, Catherine ^b   Frémeaux Bacchi, Veronique ^a,b  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b CENTRE DE RECHERCHE DES CORDELIERS   (France)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Complement; Human; Immunodeficiency disease; Molecular biology

Indexed keywords

COMPLEMENT COMPONENT C7; MUTANT PROTEIN;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; DNA POLYMORPHISM; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC CODE; GENETIC SCREENING; GOLGI COMPLEX; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ADOLESCENT; ADULT; BLOOD PROTEIN DISORDERS; CHILD, PRESCHOOL; COMPLEMENT C7; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNE SYSTEM DISEASES; MALE; MENINGOCOCCAL INFECTIONS; MUTATION; NEISSERIA MENINGITIDIS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 34250666660     PISSN: 00142980     EISSN: None     Source Type: Journal    
DOI: 10.1002/eji.200636812     Document Type: Article

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