PurposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. MethodsThis retrospective study included 132 subjects comprising 95 probands cli
aWildtype sequence of RT-SHIV includes guanine at positions 8803 and 8805.bA mutation at splice acceptor G-8803 would prevent the generation of a MS transcript containing the CAG sequence.cMesenteric
Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the m
This study was the first-known large-scale effort to uncover the mutational spectrum of head and neck cancers. We analyzed whole-exome sequence from 92 tumor-normal pairs and retained 74 of them for s
