Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population. METHODS: We conduc...

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Detalles Bibliográficos
Autores principales: Ishiko, Shinya, Morisada, Naoya, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Kaito, Hiroshi, Hamada, Riku, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770369/
https://www.ncbi.nlm.nih.gov/pubmed/34536170
http://dx.doi.org/10.1007/s10157-021-02135-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770369/
https://www.ncbi.nlm.nih.gov/pubmed/34536170
http://dx.doi.org/10.1007/s10157-021-02135-3

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