(Q34259605)

1 August 2017

title

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement (English)

1 reference

1 August 2017

1 reference

Welch TR

1

1 reference

1 August 2017

Beischel LS

2

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1 August 2017

Choi E

3

1 reference

1 August 2017

Balakrishnan K

4

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1 August 2017

Bishof NA

5

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1 August 2017

language of work or name

English

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publication date

1 August 1990

1 reference

Journal of Clinical Investigation

1 August 2017

published in

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1 August 2017

volume

86

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1 August 2017

issue

2

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1 August 2017

page(s)

675-678

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Inherited structural polymorphism of the fourth component of human complement

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Polymorphic DNA region adjacent to the 5' end of the human insulin 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=296776

The origin of mosaic Down syndrome: four cases with chromosome markers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Genetic polymorphism in human glycine-rich beta-glycoprotein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

The effect of null C4 alleles on complement function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

A genetic linkage map of the human genome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Lupus diseases associated with hereditary and acquired deficiencies of complement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

DO beta: a new beta chain gene in HLA-D with a distinct regulation of expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Uniparental disomy as a mechanism for human genetic 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=296776

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296776

Serotyping for homotransplantation. 18. Refinement of microdroplet lymphocyte cytotoxicity test

6 July 2018

1 reference

12 December 2020

Molecular genetics of C4B deficiency in IgA nephropathy

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Molecular basis of complete C4 deficiency. A study of three patients

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI114760

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1 August 2017

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1 August 2017

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