(Q24310158)

GOA release 2020-03-11

hearing

1 reference

GOA release 2020-03-11

Alport syndrome

1 reference

autosomal recessive Alport syndrome

inferred from title

1 reference

1 reference

ORCID Public Data File 2021

author name string

T Mochizuki

1

0 references

H H Lemmink

2

0 references

M Mariyama

3

0 references

C Antignac

4

0 references

M C Gubler

5

0 references

Y Pirson

6

0 references

C Verellen-Dumoulin

7

0 references

B Chan

8

0 references

C H Schröder

9

0 references

H J Smeets

https://scigraph.springernature.com/pub.10.1038/ng0994-77

10

0 references

language of work or name

English

0 references

publication date

September 1994

0 references

published in

Nature Genetics

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volume

8

0 references

issue

1

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page(s)

77-81

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exact match

0 references

cites work

Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere

1 reference

https://api.crossref.org/works/10.1038/NG0994-77

cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain.

20 April 2017

1 reference

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

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

Structure and biological activity of basement membrane proteins

1 reference

7 January 2021

Basement membrane collagen in the kidney: regional localization of novel chains related to collagen IV

1 reference

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

7 January 2021

Molecular genetics of Alport syndrome

1 reference

7 January 2021

Genetic heterogeneity of Alport syndrome.

1 reference

7 January 2021

Hereditary nephritis with associated defects in proximal renal tubular function

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Immunochemical studies of the Alport antigen

1 reference

7 January 2021

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

1 reference

7 January 2021

The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target

1 reference

7 January 2021

Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen

1 reference

7 January 2021

Molecular characteristics of the Goodpasture autoantigen

1 reference

7 January 2021

Molecular genetics of hereditary nephritis

1 reference

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

7 January 2021