Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections (Q63315480)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439316%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections (English)

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11 December 2019

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1

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11 December 2019

author name string

O Ruuskanen

series ordinal

2

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11 December 2019

L Truedsson

series ordinal

3

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11 December 2019

M L Lokki

series ordinal

4

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11 December 2019

publication date

1 August 1999

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11 December 2019

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11 December 2019

volume

60

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11 December 2019

issue

8

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11 December 2019

page(s)

707-714

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The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates

11 December 2019

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7 January 2021

Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster.

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7 January 2021

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

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7 January 2021

Structure of human steroid 21-hydroxylase genes

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7 January 2021

Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes

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7 January 2021

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

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7 January 2021

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

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7 January 2021

Complete inherited deficiency of the fourth complement component in a child with systemic lupus erythematosus and his disease-free brother in a north African family

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7 January 2021

HLA complement gene polymorphisms in multiple sclerosis. A study on 80 Italian patients

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7 January 2021

Molecular heterogeneity of the fourth component of complement (C4) and its genes in vitiligo

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Analysis of complement C4 loci in Caucasoids and Japanese with idiopathic membranous nephropathy

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7 January 2021

Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles

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7 January 2021

An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis.

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7 January 2021

Molecular genetics of the human MHC complement gene cluster

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7 January 2021

A simple micro cytotoxicity test

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7 January 2021

Phenotyping of human complement component C4, a class-III HLA antigen

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7 January 2021

GENOMIC ANALYSIS OF THE F SUBTYPES OF HUMAN COMPLEMENT FACTOR B

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7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

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7 January 2021

The structural basis of the multiple forms of human complement component C4.

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7 January 2021

Molecular heterogeneity in deficiency of complement protein C2 type I.

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7 January 2021

Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

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7 January 2021

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

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7 January 2021

Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion

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7 January 2021

Infectious diseases associated with complement deficiencies

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7 January 2021

Antibody-independent activation of the alternative complement pathway by measles virus-infected cells

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7 January 2021

Complement C3 and factor B cerebrospinal fluid concentrations in bacterial and aseptic meningitis

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7 January 2021

Effect of HLA type and hypocomplementaemia on the expression of parvovirus arthritis: one year follow up of an outbreak

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7 January 2021

Association of homozygous C4B deficiency with bacterial meningitis

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7 January 2021

C4B deficiency: a risk factor for bacteremia with encapsulated organisms

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7 January 2021

C4B deficiency is not associated with meningitis or bacteremia with encapsulated bacteria

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7 January 2021

Complement analysis in adult patients with a history of bacteremic pneumococcal infections or recurrent pneumonia

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7 January 2021

C4 null alleles in a Swedish population

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7 January 2021

Relationship between protein complotypes and DNA variant haplotypes: complotype-RFLP constellations (CRC)

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7 January 2021

Allelic polymorphism of two multifunctional regions in the central human MHC: tenascin X, XB-S and YB, and their duplicated fragments XA and YA

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7 January 2021

A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?

1 reference

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7 January 2021

10.1016/S0198-8859(99)00047-6

Identifiers

DOI

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11 December 2019

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