लोड हो रहा है...

PPFIA4 mutation: A second hit in POLG related disease?

Epilepsy in POLG related disease usually involves biallelic recessive mutations causing chronic neuronal loss and neuronal death. However, monoallelic POLG mutations have been reported in patients with neurological features such as seizures [1]. In these patients a second allele/gene was anticipated...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Epilepsy Behav Rep
मुख्य लेखकों: Sourbron, Jo, Jansen, Katrien, Aerts, Nele, Lagae, Lieven
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2021
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC8164014/
https://ncbi.nlm.nih.gov/pubmed/34095804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2021.100455
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!