(Q80066117)

English

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

scientific article published on 28 March 2007

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Alport syndrome

1 reference

based on heuristic

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author name string

Slajpah M

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Gorinsek B

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Berginc G

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Vizjak A

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17396119%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Ferluga D

5

1 reference

Europe PubMed Central

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28 December 2019

Hvala A

6

1 reference

Europe PubMed Central

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28 December 2019

Meglic A

7

1 reference

Europe PubMed Central

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28 December 2019

Jaksa I

8

1 reference

Europe PubMed Central

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28 December 2019

Furlan P

9

1 reference

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28 December 2019

Gregoric A

10

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28 December 2019

Kaplan-Pavlovcic S

11

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28 December 2019

Ravnik-Glavac M

12

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28 December 2019

Glavac D

13

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28 December 2019

language of work or name

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publication date

28 March 2007

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28 December 2019

Kidney International

1 reference

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28 December 2019

71

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28 December 2019

12

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28 December 2019

1287-1295

1 reference

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28 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ki.5002221

0 references

Familial thin basement membrane nephropathy in children with asymptomatic microhematuria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of mutations in COL4A5 in patients with Alport Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational analysis of COL4A5 gene in Korean Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the COL4A4 gene in thin basement membrane disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Renal biopsy diagnosis in children presenting with haematuria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Asymptomatic isolated microhaematuria: natural history of 136 children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

Native horizontal ultrathin polyacrylamide gel electrophoresis of proteins under basic and acidic conditions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002221

7 January 2021

based on heuristic

inferred from DOI database lookup

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