Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease asDeficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populationsCopy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections.Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.Assessment of complement C4 gene copy number using the paralog ratio test.Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus.The complement system: a gateway to gene-environment interactions in schizophrenia pathogenesis.Genetic deficiencies of complement.HLA-B44031;DRB1*1503 and other sub-Saharan African major histocompatibility complex haplotypes in African Americans and Afro-Caribbeans carry C4A gene deletions: implications for ethnicity-specific lupus susceptibility genes.Establishment of gene copy number-specific normal ranges for serum C4 and its utility for interpretation in patients with chronically low serum C4 concentrations.
P2860
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P2860
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Genetic basis of human complem ...... tion leading to nonexpression.
@en
type
label
Genetic basis of human complem ...... tion leading to nonexpression.
@en
prefLabel
Genetic basis of human complem ...... tion leading to nonexpression.
@en
P2093
P2860
P356
P1476
Genetic basis of human complem ...... tion leading to nonexpression.
@en
P2093
P2860
P304
P356
10.1172/JCI116377
P407
P577
1993-04-01T00:00:00Z