(Q70758582)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

S Nomura

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

G Osawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

T Sai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

T Harano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

K Harano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 May 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

1116-1124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.1993.157

13 October 2019

exact match

0 references

cites work

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Localization of the gene for classic Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Identification of variant Alport phenotypes using an Alport-specific antibody probe.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

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://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Alport syndrome caused by a 5' deletion within the COL4A5 gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Subunit structure and assembly of the globular domain of basement-membrane collagen type IV

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Acute Crescentic Glomerulonephritis Associated with Antiglomerular Basement Membrane Antibody in Alport's Syndrome After Second Transplantation

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Transcription of the dystrophin gene in human muscle and non-muscle tissue

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.157

7 January 2021

Identifiers

DOI

10.1038/KI.1993.157

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8510391%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference