(Q41639836)

5 October 2017

The molecular genetics of Alport syndrome: report of two workshops (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1349924

17 September 2022

0 references

1 reference

F. Flinter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1349924

17 September 2022

M. Bobrow

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1349924

17 September 2022

language of work or name

English

0 references

publication date

1 May 1992

1 reference

PMCID

1015961

full work available at URL

5 October 2017

https://europepmc.org/articles/PMC1015961

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1349924

https://europepmc.org/articles/PMC1015961?pdf=render

17 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1349924

Journal of Medical Genetics

17 September 2022

published in

1 reference

5 October 2017

29

1 reference

5 October 2017

5

1 reference

5 October 2017

352-353

1 reference

Mapping of Alport syndrome to the long arm of the X chromosome

5 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Anti-glomerular basement membrane antibody-mediated nephritis complicating transplantation in a patient with Alport's syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Genetics of classic Alport's syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Recurrent primary disease and de novo nephritis following renal transplantation

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Localization of the gene for X-linked Alport's syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

Localization of the gene for classic Alport syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015961

A clinical study of hereditary interstitial pyelonephritis

6 June 2018

1 reference

12 December 2020

Localization of the Goodpasture epitope to a novel chain of basement membrane collagen

1 reference

12 December 2020

Demography of dialysis and transplantation in Europe, 1984. Report from the European Dialysis and Transplant Association Registry

1 reference

12 December 2020

The clinical spectrum of hereditary nephritis

1 reference

12 December 2020

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.5.352

1 reference

release_tvrtujmpzzcyzkhyjbmtrtz6vm

5 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tvrtujmpzzcyzkhyjbmtrtz6vm

24 November 2022

mapped directly with Wikidata item

PMCID

1015961

1 reference

5 October 2017

1 reference

PMCID

1015961