(Q49153182)

18 February 2018

title

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

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18 February 2018

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Nakazato H

1

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18 February 2018

Hattori S

2

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18 February 2018

Matsuura T

3

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18 February 2018

Koitabashi Y

4

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18 February 2018

Endo F

5

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18 February 2018

Matsuda I

6

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18 February 2018

language of work or name

English

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publication date

1 November 1993

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18 February 2018

published in

Kidney International

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18 February 2018

volume

44

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18 February 2018

issue

5

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18 February 2018

page(s)

1091-1096

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18 February 2018

https://scigraph.springernature.com/pub.10.1038/ki.1993.353

exact match

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cites work

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

Genetics of classic Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

The glomerular basal lamina in hereditary nephritis

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

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.1993.353

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.1993.353

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.1993.353

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.1993.353

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.1993.353

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

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.1993.353

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

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.1993.353

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

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.1993.353

7 January 2021

Structure and biological activity of basement membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FKI.1993.353

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.1993.353

7 January 2021

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://api.crossref.org/works/10.1038%2FKI.1993.353

7 January 2021

Identifiers

DOI

10.1038/KI.1993.353

1 reference

18 February 2018

Dimensions Publication ID

1013140966

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1 reference

18 February 2018