Linking C5 deficiency to an exonic splicing enhancer mutation

Journal of Immunology

Volumn 174, Issue 7, 2005, Pages 4172-4177

  Pfarr, Nicole ^a   Prawitt, Dirk ^a   Kirschfink, Michael ^b   Schroff, Claudia ^a   Knuf, Markus ^a   Habermehl, Pirmin ^a   Mannhardt, Wilma ^a   Zepp, Fred ^a   Fairbrother, William ^c   Loos, Michael ^d   Burge, Christopher B ^d   Pohlenz, Joachim ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CEFOTAXIME; CEFUROXIME; COMPLEMENT COMPONENT C5; COMPLEMENTARY DNA; LYSINE; PENICILLIN G;

ALLELE; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEMENT DISORDER; DISEASE ASSOCIATION; ENHANCER REGION; EXON; FUNCTIONAL ASSESSMENT; GENE MUTATION; HUMAN; IMMUNOCHEMISTRY; INNATE IMMUNITY; LONG TERM CARE; MALE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; STOP CODON;

EID: 20144386118     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: 10.4049/jimmunol.174.7.4172     Document Type: Article

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