C5 complement deficiency in a saudi family, molecular characterization of mutation and literature review

Journal of Clinical Immunology

Volumn 33, Issue 4, 2013, Pages 871-875

  Arnaout, Rand ^a,b   Al Shorbaghi, Sahar ^a   Al Dhekri, Hasan ^a,b   Al Mousa, Hamoud ^a,b   Al Ghonaium, Abdulaziz ^a   Al Saud, Bandar ^a,b   Al Muhsen, Saleh ^a,c   Al Baik, Lina ^a   Hawwari, Abbas ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

complement 5; meningococcal infection; mutation; Primary immunodeficiency

Indexed keywords

COMPLEMENT COMPONENT C5; COMPLEMENT COMPONENT C6; COMPLEMENT COMPONENT C7; COMPLEMENT COMPONENT C8; COMPLEMENT COMPONENT C9; CYTOSINE; DNA; GLUTAMINE; THYMINE;

BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; COMPLEMENT BLOOD LEVEL; COMPLEMENT COMPONENT C5 DEFICIENCY; COMPLEMENT DEFICIENCY; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILY; FEMALE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MENINGOCOCCEMIA; MOLECULAR GENETICS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SAUDI ARABIA; STOP CODON;

CHILD, PRESCHOOL; COMPLEMENT C5; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MENINGOCOCCAL INFECTIONS; NEISSERIA MENINGITIDIS; PEDIGREE; SAUDI ARABIA; SEQUENCE DELETION; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84878018944     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9872-7     Document Type: Review

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