(Q24679616)

English

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

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scholarly article

0 references

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 (English)

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Alport syndrome

1 reference

based on heuristic

inferred from title

X-linked Alport syndrome

1 reference

based on heuristic

inferred from title

Marie-Claire Gubler

1 reference

ORCID Public Data File 2021

author name string

B Knebelmann

1

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G Deschenes

2

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F Gros

3

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M C Hors

4

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J P Grünfeld

5

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J Zhou

6

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K Tryggvason

7

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M C Gubler

8

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C Antignac

9

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language of work or name

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publication date

July 1992

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American Journal of Human Genetics

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51

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135-42

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1

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Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

7 April 2017

Mapping of Alport syndrome to the long arm of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

An anonymous single copy X-chromosome clone DXS94 from Xq11-q21 identifies a common RFLP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

Illegitimate transcription: transcription of any gene in any cell type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis. Relationship of familial nephritis and Goodpasture antigens to novel collagen chains and

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

28 September 2017

Editorial: Alport's syndrome: a consideration of pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

30 May 2018

Localization of the gene for X-linked Alport's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

30 May 2018

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

30 May 2018

Localization of the gene for classic Alport syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

30 May 2018

Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682875

30 May 2018

Localization of the Goodpasture epitope to a novel chain of basement membrane collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1376965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies in X-linked Alport's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1376965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical spectrum of hereditary nephritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1376965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutagenic deamination of cytosine residues in DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1376965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary nephritis: immunoblotting studies of the glomerular basement membrane

1 reference

https://pubmed.ncbi.nlm.nih.gov/1376965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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