(Q44766725)

6 December 2017

Deletions of the COL4A5 gene in patients with Alport syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

1 reference

K. O. Netzer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

L. Renders

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

J. Zhou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

O. Pullig

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

K. Tryggvason

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

M. Weber

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1474765

30 September 2022

language of work or name

English

0 references

publication date

1 December 1992

1 reference

6 December 2017

1 reference

6 December 2017

42

1 reference

6 December 2017

6

1 reference

6 December 2017

1336-1344

1 reference

https://scigraph.springernature.com/pub.10.1038/ki.1992.425

6 December 2017

0 references

cites work

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

ANTERIOR LENTICONUS IN FAMILIAL HEMORRHAGIC NEPHRITIS. DEMONSTRATION OF LENS PATHOLOGY

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Anterior lenticonus and Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

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.1992.425

7 January 2021

The glomerular basal lamina in hereditary nephritis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Alport's syndrome: specificity and pathogenesis of glomerular basement membrane alterations

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Correlation of glomerular basement membrane alterations with clinical data in progressive hereditary nephritis (Alport's syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

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.1992.425

7 January 2021

The Goodpasture antigen in Alport's syndrome: studies with a monoclonal antibody

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Genetic heterogeneity of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Linkage studies in X-linked Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Localization of the gene for classic Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

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.1992.425

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

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.1992.425

7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

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.1992.425

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.1992.425

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.1992.425

7 January 2021

Do the poly(A) tail and 3' untranslated region control mRNA translation?

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Basement membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.425

7 January 2021

Identifiers

DOI

10.1038/KI.1992.425

1 reference

6 December 2017

1 reference