लोड हो रहा है...

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis

PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype–phenotype correlation in a Korean cohort. METHODS: This single-center retrospective case series included 50 Korean patients with LCA between J...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Vis
मुख्य लेखकों: Surl, Dongheon, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak, Lee, Junwon, Byeon, Suk Ho, Han, Sueng-Han, Lim, Hyun Taek, Han, Jinu
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Molecular Vision 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7043639/
https://ncbi.nlm.nih.gov/pubmed/32165824
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!