(Q37359117)

19 August 2017

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

1 reference

19 August 2017

Lemmink HH

1

1 reference

19 August 2017

Nillesen WN

2

1 reference

19 August 2017

Mochizuki T

3

1 reference

19 August 2017

Schröder CH

4

1 reference

19 August 2017

Brunner HG

5

1 reference

19 August 2017

van Oost BA

6

1 reference

19 August 2017

Monnens LA

7

1 reference

19 August 2017

Smeets HJ

8

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 September 1996

1 reference

Journal of Clinical Investigation

19 August 2017

1 reference

19 August 2017

98

1 reference

19 August 2017

5

1 reference

19 August 2017

1114-1118

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Alport's syndrome. Emphasizing electron microscopic studies of the glomerulus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Genetic features of Alport's syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Mutations in collagen genes: causes of rare and some common diseases in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Glomerular basement membrane attenuation in familial nephritis and "benign" hematuria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Quantitative estimation of cells in urine. An evaluation of the Addis count

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport's syndrome).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507532

Familial thin basement membrane nephropathy in children with asymptomatic microhematuria

2 September 2018

1 reference

12 December 2020

Renal biopsy and family studies in 65 children with isolated hematuria

1 reference

12 December 2020

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome

1 reference

12 December 2020

Key role for a minor collagen

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI118893

1 reference

release_io5ez5tg7vg43ecajxlds5zxby

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/io5ez5tg7vg43ecajxlds5zxby

24 November 2022

mapped directly with Wikidata item

1 reference

19 August 2017

PubMed publication ID

8787673

1 reference