Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases (Q79537563)

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24 December 2019

title

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases (English)

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24 December 2019

5

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24 December 2019

Judy Savige

8

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24 December 2019

author name string

Kesha Rana

1

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24 December 2019

Stephen Tonna

2

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24 December 2019

Yan Yan Wang

3

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24 December 2019

Lydia Sin

4

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24 December 2019

Elizabeth Shaw

6

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24 December 2019

Ishanee Mookerjee

7

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24 December 2019

publication date

10 January 2007

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24 December 2019

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24 December 2019

volume

22

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24 December 2019

page(s)

652-657

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24 December 2019

issue

5

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https://scigraph.springernature.com/pub.10.1007/s00467-006-0393-y

24 December 2019

exact match

0 references

cites work

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

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12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Benign familial hematuria associated with a novel COL4A4 mutation

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Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome

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Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.

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Persistent familial hematuria in children and the locus for thin basement membrane nephropathy

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Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

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Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

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Mutations in the COL4A4 gene in thin basement membrane disease

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12 December 2020

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

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Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

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12 December 2020

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

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

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Estimating prevalence in single-gene kidney diseases progressing to renal failure

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Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

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Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

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RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

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Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome

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Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

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Genetic heterogeneity of Alport syndrome.

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

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Hematuria: a simple method for identifying glomerular bleeding.

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Thin basement membrane nephropathy

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Thin-membrane nephropathy--a common cause of glomerular haematuria

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

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