(Q71122531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

S Kawai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

S Nomura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

T Harano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

K Harano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

T Fukushima

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

G Osawa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 March 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

814-822

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.1996.113

16 October 2019

exact match

0 references

cites work

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Genetics of classic Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Genetic heterogeneity of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Construction of a yeast artificial chromosome contig encompassing the human alpha 5(IV) collagen gene (COL4A5).

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Molecular genetics of Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Deletions of the COL4A5 gene in patients with Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

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.1996.113

7 January 2021

Identification of a single base insertion in the COL4A5 gene in Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

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.1996.113

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.1996.113

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

3rd International Workshop on Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Hereditary macrothrombocytopathia, nephritis and deafness

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

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.1996.113

7 January 2021

Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Ophthalmologic assessment of young patients with Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Posterior polymorphous dystrophy and Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1996.113

7 January 2021

Identifiers

DOI

10.1038/KI.1996.113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8648925%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference