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Novel mutations in patients with X-linked Alport syndrome: Two case reports
RATIONALE: A genotype-phenotype correlation is known to be associated with Alport syndrome (AS). Identifying novel mutations can expand the knowledge about the natural course of AS. PATIENT CONCERNS: The first patient was a-15-year-old boy detected with proteinuria during the school health check-up....
Autores principales: | Oh, Songhee, Kim, Jieun, Kim, Hyoungnae, Jeon, Jin Seok, Noh, Hyunjin, Han, Dong Cheol, Jin, So-Young, Kwon, Soon Hyo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531161/ https://www.ncbi.nlm.nih.gov/pubmed/31096494 http://dx.doi.org/10.1097/MD.0000000000015660 |
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