(Q35882216)

10 August 2017

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome (English)

1 reference

10 August 2017

1 reference

X-linked Alport syndrome

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Knebelmann B

1

1 reference

10 August 2017

Breillat C

2

1 reference

10 August 2017

Forestier L

3

1 reference

10 August 2017

Arrondel C

4

1 reference

10 August 2017

Jacassier D

5

1 reference

10 August 2017

Giatras I

6

1 reference

10 August 2017

Drouot L

7

1 reference

10 August 2017

Deschênes G

8

1 reference

10 August 2017

Grünfeld JP

9

1 reference

10 August 2017

Broyer M

10

1 reference

10 August 2017

Gubler MC

11

1 reference

10 August 2017

Antignac C

12

1 reference

10 August 2017

language of work or name

English

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publication date

1 December 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

59

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10 August 2017

1221-1232

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10 August 2017

6

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X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Molecular genetics of Alport syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Identification of a single base insertion in the COL4A5 gene in Alport syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Structure of the human type IV collagen COL4A5 gene.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the alpha 5 chain of type IV collagen.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914854

Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome

24 September 2018

1 reference

12 December 2020

Evidence for separate networks of classical and novel basement membrane collagen. Characterization of alpha 3(IV)-alport antigen heterodimer

1 reference

12 December 2020

The structural organization of type IV collagen. Identification of three NC1 populations in the glomerular basement membrane

1 reference

12 December 2020

COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome

1 reference

12 December 2020

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain

1 reference

12 December 2020

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

1 reference

12 December 2020

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome

1 reference

12 December 2020

Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain

1 reference

12 December 2020

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

1 reference