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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Detalhes bibliográficos
Publicado no:Iran Biomed J
Main Authors: Alizadeh, Rasoul, Jamshidi, Sanaz, Keramatipour, Mohammad, Moeinian, Parisa, Hosseini, Rozita, Otukesh, Hasan, Talebi, Saeed
Formato: Artigo
Idioma:Inglês
Publicado em: Pasteur Institute of Iran 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7601541/
https://ncbi.nlm.nih.gov/pubmed/32660933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29252/ibj.24.6.400
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