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Detection of mutations in COL4A5 in patients with Alport Syndrome
article
Detection of mutations in COL4A5 in patients with Alport syndrome
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
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
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
main subject
Alport syndrome
1 reference
based on heuristic
inferred from title
author
Kathryn E Plant
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
David Vetrie
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
Kate E. Plant
series ordinal
1
0 references
Peter M. Green
series ordinal
2
0 references
David Vetrie
series ordinal
3
0 references
Frances A. Flinter
series ordinal
4
0 references
Green PM
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Flinter FA
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
publication date
1999
0 references
1 January 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
13
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
124-132
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
cites work
Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
3rd International Workshop on Alport syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Genetics of classic Alport's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
The rapid detection of unknown mutations in nucleic acids.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Molecular genetics of Alport syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C124%3A%3AAID-HUMU4%3E3.0.CO%3B2-Z
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z
0 references
PubMed publication ID
10094548
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10094548
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10094548%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
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