Molecular characterization of three new mutations causing C5 deficiency in two non-related families

Molecular Immunology

Volumn 46, Issue 11-12, 2009, Pages 2340-2347

  López Lera, Alberto ^a   Garrido, Sofía ^a   de la Cruz, Rocío Mena ^a   Fontán, Gumersindo ^a   López Trascasa, Margarita ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

C5; Complement deficiency; de novo mutation; Immunodeficiency; Meningitis; Splicing enhancer

Indexed keywords

ADENINE; COMPLEMENT COMPONENT C5; CYTOSINE; GLUTAMINE; GUANINE; HISTIDINE; THYMINE; TYROSINE;

ARTICLE; BACTERIAL MENINGITIS; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; NONSENSE MUTATION; PRIORITY JOURNAL;

COMPLEMENT C5; FEMALE; HETEROZYGOTE; HUMANS; MALE; MENINGITIS, MENINGOCOCCAL; MODELS, MOLECULAR; MUTATION; NEISSERIA MENINGITIDIS, SEROGROUP B;

EID: 67349229266     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2009.03.026     Document Type: Article

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