2019Korean Journal of PediatricsOpen access

Genetic diagnosis of Alport syndrome

Hae Il Cheong

Open full text 2 citations

Abstract

See the article "De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea" via https://doi.org/10.3345/kjp.2018.06772.

Open-access reader

About this research paper

What this paper is about

See the article "De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea" via https://doi.org/10.3345/kjp.2018.06772.

Why it matters

OpenAlex reports 2 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

See the article "De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea" via https://doi.org/10.3345/kjp.2018.06772.

Key concepts: Medicine, Alport syndrome, Genetic diagnosis, Dermatology, Pediatrics, Genetics, Internal medicine, Glomerulonephritis

Related papers

Back to paper searchBrowse research topicsOriginal source
Genetic diagnosis of Alport syndrome — Research Paper | ScholarLens