X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (Q35882758)

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16 October 2019

title

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

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16 October 2019

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X-linked Alport syndrome

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A Renieri

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M Bruttini

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L Galli

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P Zanelli

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S Rossetti

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A Turco

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J Zhou

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R Gusmano

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L Massella

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A Sessa

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K Tryggvason

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P F Pignatti

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M Savi

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A Ballabio

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M De Marchi

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language of work or name

English

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publication date

1 June 1996

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American Journal of Human Genetics

16 October 2019

published in

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16 October 2019

volume

58

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16 October 2019

issue

6

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16 October 2019

page(s)

1192-1204

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Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

16 October 2019

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Molecular genetics of Alport syndrome

11 July 2018

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

11 July 2018

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

11 July 2018

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

11 July 2018

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11 July 2018

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

11 July 2018

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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.

11 July 2018

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

11 July 2018

1 reference

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De-novo COL4A5 gene mutations in Alport's syndrome.

11 July 2018

1 reference

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Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients

11 July 2018

1 reference

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Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

11 July 2018

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Genetic heterogeneity of Alport syndrome.

11 July 2018

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Genetic heterogeneity among kindreds with Alport syndrome

11 July 2018

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Genetics of classic Alport's syndrome

11 July 2018

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

11 July 2018

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

11 July 2018

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Brittle bones--fragile molecules: disorders of collagen gene structure and expression

11 July 2018

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Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

11 July 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

11 July 2018

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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

11 July 2018

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De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

11 July 2018

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Structure of the human type IV collagen COL4A5 gene.

11 July 2018

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Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

24 September 2018

1 reference

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How neutral are synonymous codon mutations?

24 September 2018

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

14 November 2018

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12 December 2020

How to find all those mutations

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12 December 2020

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

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12 December 2020

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

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12 December 2020

[Growth disorders after injury of the epiphyses in children.]

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12 December 2020

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

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12 December 2020

Nonisotopic SSCP detection in PCR products by ethidium bromide staining

1 reference

12 December 2020

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

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12 December 2020

Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651296%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8651296

1 reference