Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP (Q73552723)

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4 November 2019

title

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP (English)

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4 November 2019

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D F Barker

1

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4 November 2019

J C Denison

series ordinal

2

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4 November 2019

C L Atkin

series ordinal

3

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4 November 2019

M C Gregory

series ordinal

4

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4 November 2019

publication date

1 January 2001

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American Journal of Medical Genetics Part A

4 November 2019

published in

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4 November 2019

volume

98

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4 November 2019

issue

2

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4 November 2019

page(s)

148-160

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HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

4 November 2019

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Identification of mutations in the COL4A5 collagen gene in Alport syndrome

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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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

21 January 2018

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

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

21 January 2018

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A Complete YAC Contig and Cosmid Interval Map Covering the Entirety of Human Xq21.33 to Xq22.3 from DXS3 to DXS287

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis

21 January 2018

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21 January 2018

Identifiers

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4 November 2019

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