Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populations

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Boteva, Lora ^a   Wu, Yee Ling ^b   Cortes Hernández, Josefina ^c   Martin, Javier ^d   Vyse, Timothy J ^a   Fernando, Michelle M A ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPLEMENT C4 GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA FLANKING REGION; EXON; FEMALE; GENE INSERTION; GENETIC CORRELATION; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HIGH THROUGHPUT SCREENING; HUMAN; IMMUNE RESPONSE GENE; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; NORMAL HUMAN; PARALOGY; POPULATION RESEARCH; PROCESS DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; UNITED KINGDOM; COHORT ANALYSIS; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETICS; GENOTYPE; GENOTYPING TECHNIQUE; HAPLOTYPE; METHODOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; SYSTEMIC LUPUS ERYTHEMATOSUS;

COMPLEMENT COMPONENT C4; COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; HLA DRB1 ANTIGEN;

BASE SEQUENCE; COHORT STUDIES; COMPLEMENT C4; COMPLEMENT C4A; COMPLEMENT C4B; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; GENOTYPING TECHNIQUES; GREAT BRITAIN; HAPLOTYPES; HLA-DRB1 CHAINS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPAIN;

EID: 79961039212     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022128     Document Type: Article

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