Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency

Immunobiology

Volumn 221, Issue 5, 2016, Pages 641-649

  Silva, Karina Ribeiro da ^a   Fraga, Tatiana Rodrigues ^a   Lucatelli, Juliana Faggion ^a   Grumach, Anete Sevciovic ^b   Isaac, Lourdes ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

C3 deficiency; Complement system; Exon skipping

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C3A; COMPLEMENT COMPONENT C3B; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAZILIAN; C3 GENE; CASE REPORT; CHILD; COMPLEMENT DEFICIENCY; COMPLEMENT HEMOLYSIS TEST; COMPLETE COMPLEMENT C3 DEFICIENCY; CONSANGUINITY; CONTROLLED STUDY; EXON SKIPPING; FEMALE; FIRST DEGREE RELATIVE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SKIN FIBROBLAST; SPLICING DEFECT; TED DOMAIN; ADULT; ALTERNATIVE RNA SPLICING; BRAZIL; CHEMISTRY; COMPLEMENT ALTERNATIVE PATHWAY; COMPLEMENT CLASSICAL PATHWAY; DEFICIENCY; DNA MUTATIONAL ANALYSIS; EXON; GENETICS; GENOTYPE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; MALE; MUTATION; PEDIGREE;

ADULT; ALTERNATIVE SPLICING; BRAZIL; CHILD; COMPLEMENT C3; COMPLEMENT PATHWAY, ALTERNATIVE; COMPLEMENT PATHWAY, CLASSICAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; PEDIGREE; PROTEIN INTERACTION DOMAINS AND MOTIFS; RNA, MESSENGER;

EID: 84960485971     PISSN: 01712985     EISSN: 18783279     Source Type: Journal    
DOI: 10.1016/j.imbio.2016.01.005     Document Type: Article

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