Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability

Molecular Immunology

Volumn 46, Issue 10, 2009, Pages 2116-2123

  Aguilar Ramirez, P ^a   Reis, E S ^a   Florido, M P C ^a   Barbosa, A S ^b   Farah, C S ^a   Costa Carvalho, B T ^c   Isaac, L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO BUTANTAN   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Complement C5; Exon skipping; Immunodeficiency; Meningitis; Neisseria spp.; Splicing

Indexed keywords

COMPLEMENT COMPONENT C5;

ADULT; ARTICLE; BACTERIAL MENINGITIS; CASE REPORT; COMPLEMENT BLOOD LEVEL; COMPLEMENT DEFICIENCY; CONSANGUINITY; CRYSTAL STRUCTURE; EXON; EXON SKIPPING; FAMILY HISTORY; FEMALE; FIBROBLAST CULTURE; GENE DELETION; HEMOLYSIS; HOMOZYGOSITY; HUMAN; MALE; NEISSERIA MENINGITIDIS; PEDIGREE; PRIORITY JOURNAL; RECURRENT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; WESTERN BLOTTING;

ADOLESCENT; ADULT; AMERICAN NATIVE CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOTTING, WESTERN; BRAZIL; CHILD; COMPLEMENT C5; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; HEMOLYSIS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY;

NEISSERIA;

EID: 67349098522     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2008.10.035     Document Type: Article

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