Molecular characterization of complement Factor I deficiency in two Spanish families

Molecular Immunology

Volumn 45, Issue 10, 2008, Pages 2764-2771

  Ponce Castro, Isabel María ^a   González Rubio, Carolina ^a   Delgado Cerviño, Eva María ^a   Abarrategui Garrido, Cynthia ^a   Fontán, Gumersindo ^a   Sánchez Corral, Pilar ^a   López Trascasa, Margarita ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Complement factor I; Immunodeficiency; LDLr1 module; Serine protease

Indexed keywords

COMPLEMENT FACTOR I; CYSTEINE; GLYCINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; MALE; MENINGITIS; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SPAIN;

ADOLESCENT; ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; COMPLEMENT FACTOR I; CONTIG MAPPING; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; GENOME, HUMAN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SPAIN;

EID: 41849133496     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2008.02.008     Document Type: Article

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