Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing

Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing

Item
http://www.wikidata.org/entity/Q28240534
Risk of non-Hodgkin lymphoma in association with germline variation in complement genesEarly Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune DiseasesAbrogation of the alternative complement pathway by targeted deletion of murine factor BHajdu-Cheney syndrome.Recurrent infections, pericarditis and renal disease in a patient with total C2 deficiency and decreased NK cell function consistent with acute rheumatic fever and systemic lupus erythematosus.Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).Cryptogenetic multifocal ulcerous stenosing enteritis: an atypical type of vasculitis or a disease mimicking vasculitis.The genetic and molecular bases of monogenic disorders affecting proteolytic systems.Immunodeficiency among children with recurrent invasive pneumococcal disease.Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosusPrimary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers.Current status of lupus geneticsPrenatal diagnosis of heterozygous deficiency of the second component of complement.Human genetic deficiencies reveal the roles of complement in the inflammatory network: lessons from nature.Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus.Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study.Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
P2860

Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing

Item
http://www.wikidata.org/entity/Q28240534
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Type I human complement C2 def ...... of exon 6 during RNA splicing
@ast
Type I human complement C2 def ...... of exon 6 during RNA splicing
@en
Type I human complement C2 def ...... of exon 6 during RNA splicing
@nl
type
label
Type I human complement C2 def ...... of exon 6 during RNA splicing
@ast
Type I human complement C2 def ...... of exon 6 during RNA splicing
@en
Type I human complement C2 def ...... of exon 6 during RNA splicing
@nl
prefLabel
Type I human complement C2 def ...... of exon 6 during RNA splicing
@ast
Type I human complement C2 def ...... of exon 6 during RNA splicing
@en
Type I human complement C2 def ...... of exon 6 during RNA splicing
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Type I human complement C2 def ...... of exon 6 during RNA splicing
@en
P2093
P304
P31
P407
P433
P478
P577
P698