Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

BACKGROUND: NPHP is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. XPNPEP3 mutation is related to NPHP-like 1 nephropathy and late onset NPHP. METHOD...

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Detalles Bibliográficos
Autores principales: Alizadeh, Rasoul, Jamshidi, Sanaz, Keramatipour, Mohammad, Moeinian, Parisa, Hosseini, Rozita, Otukesh, Hasan, Talebi, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601541/
https://www.ncbi.nlm.nih.gov/pubmed/32660933
http://dx.doi.org/10.29252/ibj.24.6.400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601541/
https://www.ncbi.nlm.nih.gov/pubmed/32660933
http://dx.doi.org/10.29252/ibj.24.6.400

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