(Q30887579)

20 August 2017

Molecular testing for adult type Alport syndrome (English)

1 reference

20 August 2017

1 reference

Genevieve Pont-Kingdon

1

1 reference

20 August 2017

Kelli Sumner

2

1 reference

20 August 2017

Friederike Gedge

3

1 reference

20 August 2017

Chris Miller

4

1 reference

20 August 2017

Joyce Denison

5

1 reference

20 August 2017

Martin Gregory

6

1 reference

20 August 2017

Elaine Lyon

7

1 reference

20 August 2017

17 November 2009

1 reference

20 August 2017

1 reference

20 August 2017

10

1 reference

20 August 2017

38

1 reference

Creative Commons Attribution 2.0 Generic

20 August 2017

start time

17 November 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2369-10-38

0 references

cites work

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780398

A mutation causing Alport syndrome with tardive hearing loss is common in the western United States

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780398

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780398

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

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2369-10-38

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2369-10-38

A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2369-10-38

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780398

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780398

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

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19919694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A clinical study of hereditary interstitial pyelonephritis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19919694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2369-10-38

1 reference

Dimensions Publication ID

20 August 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2369-10-38

Fatcat ID

release_seuoqenwyrfmndmcy6mzzyjbcq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/seuoqenwyrfmndmcy6mzzyjbcq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

20 August 2017

1 reference