(Q51696621)

10 April 2018

title

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients. (English)

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10 April 2018

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Kandai Nozu

1

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10 April 2018

Rafal Przybyslaw Krol

2

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Yasufumi Ohtsuka

3

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Koichi Nakanishi

4

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10 April 2018

Norishige Yoshikawa

5

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10 April 2018

Yoshimi Nozu

6

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Hiroshi Kaito

7

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Kyoko Kanda

8

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Yuya Hashimura

9

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10 April 2018

Yuhei Hamasaki

10

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Kazumoto Iijima

11

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Masafumi Matsuo

12

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10 April 2018

publication date

27 June 2008

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10 April 2018

published in

Pediatric Nephrology

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10 April 2018

volume

23

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10 April 2018

issue

11

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10 April 2018

page(s)

2085-2090

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https://scigraph.springernature.com/pub.10.1007/s00467-008-0878-y

exact match

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cites work

Mutational analysis of COL4A5 gene in Korean Alport syndrome

1 reference

12 December 2020

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

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12 December 2020

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

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12 December 2020

Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome

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12 December 2020

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

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12 December 2020

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

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12 December 2020

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

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12 December 2020

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

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12 December 2020

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

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12 December 2020

Detection of mutations in COL4A5 in patients with Alport Syndrome

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12 December 2020

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

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12 December 2020

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

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12 December 2020

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts

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12 December 2020

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

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12 December 2020

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

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12 December 2020

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

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12 December 2020

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

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12 December 2020

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

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12 December 2020

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

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12 December 2020

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency

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12 December 2020

10.1007/S00467-008-0878-Y

Identifiers

DOI

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10 April 2018

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10 April 2018