Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria-Reference-Cited by-同舟云学术

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Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria

Published:2024-02 Issue: Volume:554 Page:117795
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Wu Jinying,Cui Yaqiong,Liu Tao,Gu Chunyu,Ma Ximeng,Yu Changshun,Cai Yingzi,Shu Jianbo,Wang Wenhong,Cai Chunquan^ORCID

Publisher

Elsevier BV

Reference68 articles.

1. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD);Bergmann;Hum Mutat,2004

2. The clinical significance of asymptomatic gross and microscopic hematuria in children;Bergstein;Arch Pediatr Adolesc Med,2005

3. Type III Hyperlipoproteinemia: Still Worth Considering?;Blum;Prog Cardiovasc Dis,2016

4. Polycystic kidney disease;Bosniak;Semin Roentgenol,1975

5. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome;Boye;Am J Hum Genet,1998

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology;Human Mutation;2025-01

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