Homozygous hereditary C3 deficiency due to a partial gene deletion (Q34242968)

31 July 2017

Homozygous hereditary C3 deficiency due to a partial gene deletion (English)

1 reference

31 July 2017

complement 3 deficiency

1 reference

1 reference

7

1 reference

31 July 2017

M Botto

1

1 reference

31 July 2017

K Y Fong

2

1 reference

31 July 2017

A K So

3

1 reference

31 July 2017

R Barlow

4

1 reference

31 July 2017

R Routier

5

1 reference

31 July 2017

B J Morley

6

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 June 1992

1 reference

Proceedings of the National Academy of Sciences of the United States of America

31 July 2017

1 reference

31 July 2017

89

1 reference

31 July 2017

4957-4961

1 reference

31 July 2017

11

1 reference

The Alu family repeat promoter has a tRNA-like bipartite structure

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Sources and evolution of human Alu repeated sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Human complement component C3: cDNA coding sequence and derived primary structure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Restriction fragment length polymorphism caused by a deletion involving Alu sequences within the human alpha 2-plasmin inhibitor gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

First-strand cDNA synthesis primed with oligo(dT).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Genomic organization of human complement component C3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Molecular basis of hereditary C3 deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Molecular basis of complement C3 deficiency in guinea pigs.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Hereditary deficiency of the third component of complement in a child with fever, skin rash, and arthralgias: Response to transfusion of whole blood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Homozygous C3 deficiency: Detection of C3 by radioimmunoassay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

DNA sequencing with chain-terminating inhibitors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49207

Inherited deficiency of the third component of complement associated with recurrent pyogenic infections, circulating immune complexes, and vasculitis in a Dutch family

28 October 2018

1 reference

12 December 2020

A family with partial and total deficiency of complement C3

1 reference

12 December 2020

Complement deficiency in Sweet's syndrome

1 reference

12 December 2020

Inherited C3 deficiency with recurrent infections and glomerulonephritis

1 reference

12 December 2020

Homozygous deficiency of C3 in a patient with repeated infections

1 reference

12 December 2020

Study on C3-like factor in the serum of a C3-deficient subject

1 reference

12 December 2020

Complement deficiency and nephritis. A report of a family

1 reference

12 December 2020

Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement

1 reference

12 December 2020

Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms

1 reference

12 December 2020

Complete absence of the third component of complement in a patient with repeated infections

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.89.11.4957

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference