(Q34430129)

English

Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product

scientific article published on June 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

electrophoresis

0 references

1 reference

based on heuristic

inferred from title

Alport syndrome

1 reference

based on heuristic

inferred from title

author name string

J. Zhou

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

J. M. Hertz

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

K. Tryggvason

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

language of work or name

0 references

publication date

1 June 1992

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1598909/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1598909/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

https://europepmc.org/articles/PMC1682577

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

https://europepmc.org/articles/PMC1682577?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1598909

13 October 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

50

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1291-1300

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Structure and biological activity of basement membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Localization of the gene for classic Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine alpha 3 chain of type IV collagen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682577

6 July 2018

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1598909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alport's syndrome or hereditary nephritis?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1598909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/1598909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the Goodpasture antigen as the alpha 3(IV) chain of collagen IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/1598909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1598909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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