(Q57635521)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Detection of mutations in COL4A5 in patients with Alport Syndrome (English)

0 references

Detection of mutations in COL4A5 in patients with Alport syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

David Vetrie

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Kate E. Plant

1

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Peter M. Green

2

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David Vetrie

3

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Frances A. Flinter

4

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Green PM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Flinter FA

4

1 reference

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12 November 2019

publication date

1999

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1 January 1999

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12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

124-132

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12 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

12 November 2019

cites work

1 reference

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An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient

21 January 2018

1 reference

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

21 January 2018

1 reference

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3rd International Workshop on Alport syndrome.

21 January 2018

1 reference

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Genetics of classic Alport's syndrome

21 January 2018

1 reference

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The rapid detection of unknown mutations in nucleic acids.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

21 January 2018

1 reference

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Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

21 January 2018

1 reference

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Molecular genetics of Alport syndrome

21 January 2018

1 reference

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DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

21 January 2018

1 reference

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Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis

21 January 2018

1 reference

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

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z

21 January 2018

Identifiers

DOI

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1 reference