Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome-Reference-Cited by-同舟云学术

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Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome

Published:2012-11 Issue:6 Volume:14 Page:586-593
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Wang Fang,Zhao Dan,Ding Jie,Zhang Hongwen,Zhang Yanqin,Yu Lixia,Xiao Huijie,Yao Yong,Zhong Xuhui,Wang Suxia

Funder

National Natural Science Foundation of China

Beijing Natural Science Foundation

Eleventh Five-Year National Science and Technology Support Program

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference41 articles.

1. Alport's syndrome: a report of 58 cases and a review of the literature;Gubler;Am J Med,1981

2. The clinical spectrum of hereditary nephritis;Grünfeld;Kidney Int,1985

3. Genetics of classic Alport's syndrome;Flinter;Lancet,1988

4. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors;Zhou;Science,1993

5. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region;Heidet;Cyogenet Cell Genet,1997

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3. Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism;Chinese Medical Journal;2023-02-13

4. Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene;Clinical and Experimental Nephrology;2022-11-12

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