(Q46604912)

23 December 2017

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577459

10 October 2022

1 reference

chromosomal deletion syndrome

1 reference

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10 October 2022

1

A. Renieri

1 reference

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10 October 2022

2

M. Seri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577459

10 October 2022

4

T. Pihlajaniemi

1 reference

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10 October 2022

author name string

J. C. Myers

3

1 reference

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10 October 2022

A. Sessa

5

1 reference

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10 October 2022

G. Rizzoni

6

1 reference

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10 October 2022

M. De Marchi

7

1 reference

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10 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1577459

10 October 2022

publication date

1 April 1992

1 reference

23 December 2017

published in

Human Genetics

1 reference

23 December 2017

volume

89

1 reference

23 December 2017

page(s)

120-121

1 reference

23 December 2017

issue

1

1 reference

23 December 2017

https://scigraph.springernature.com/pub.10.1007/bf00207059

exact match

0 references

cites work

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

12 December 2020

Genetics of classic Alport's syndrome

1 reference

12 December 2020

Localization of the gene for classic Alport syndrome

1 reference

12 December 2020

Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)

1 reference

12 December 2020

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00207059

1 reference

23 December 2017

1 reference

23 December 2017