Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome (Q33330770)

25 July 2017

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (English)

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atypical hemolytic uremic syndrome

25 July 2017

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Ying L

1

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25 July 2017

Katz Y

2

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25 July 2017

Schlesinger M

3

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25 July 2017

Carmi R

4

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25 July 2017

Shalev H

5

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25 July 2017

Haider N

6

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25 July 2017

Beck G

7

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25 July 2017

Sheffield VC

8

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25 July 2017

Landau D

9

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25 July 2017

language of work or name

English

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publication date

1 December 1999

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American Journal of Human Genetics

25 July 2017

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25 July 2017

65

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25 July 2017

1538-1546

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25 July 2017

6

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Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.

25 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Genetic studies into inherited and sporadic hemolytic uremic syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

A comprehensive genetic map of the human genome based on 5,264 microsatellites

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Porcine membranoproliferative glomerulonephritis type II: an autosomal recessive deficiency of factor H.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Genetics and deficiencies of the soluble regulatory proteins of the complement system

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Familial hemolytic-uremic syndrome and homozygous factor H deficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Inherited factor H deficiency and collagen type III glomerulopathy.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Hemolytic uremic syndrome with hypocomplementemia and deposits of IgM and C3 in the involved renal tissue.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

The hemolytic uremic syndrome of childhood and its variants

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Recurrent haemolytic-uraemic syndrome with hypocomplementaemia: a case report

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

The complete amino acid sequence of human complement factor H

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Familial, recurrent hemolytic-uremic syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Discrimination between activators and nonactivators of the alternative pathway of complement: regulation via a sialic acid/polyanion binding site on factor H

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

The haemolytic uraemic syndrome--a family study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Hemolytic Uremic Syndrome in Families

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Control of the amplification convertase of complement by the plasma protein beta1H

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Hemolytic uremic syndrome with recurrent episodes: an important subset

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Hemolytic uremic syndrome with hypocomplementemia, serum C3NeF, and glomerular deposits of C3

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Heterozygous and homozygous factor H deficiency states in a Dutch family

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Simplified northern blot hybridization using 5% sodium dodecyl sulfate

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288364

Programs for pedigree analysis: Mendel, Fisher, and dGene

31 October 2018

1 reference

12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

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12 December 2020

A collection of ordered tetranucleotide-repeat markers from the human genome. The Utah Marker Development Group

1 reference

12 December 2020

[Familial hemolytic uremic syndrome]

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12 December 2020

Recurrent hemolytic uremic syndrome with hypocomplementemia and intestinal lymphangiectasia

1 reference

12 December 2020

Glomerular deposits and hypoalbuminemia in acute post-streptococcal glomerulonephritis

1 reference

12 December 2020

Identifiers

DOI

10.1086/302673

1 reference

25 July 2017

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25 July 2017

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