Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

por Heidari, Masoud, Gharshasbi, Hamid, Isazadeh, Alireza, Soleyman-Nejad, Morteza, Taskhiri, Mohammad Hossein, Shapouri, Javad, Bolhassani, Manzar, Sadighi, Nahid, Heidari, Mansour
Publicado 2021

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

por Heidari, Masoud, Soleyman‐Nejad, Morteza, Isazadeh, Alireza, Shapouri, Javad, Taskhiri, Mohammad Hossein, Ahangari, Roghayyeh, Mohamadi, Ali Reza, Ebrahimi, Masoumeh, Karimi, Hadi, Bolhassani, Manzar, Karimi, Zahra, Heidari, Mansour
Publicado 2020