Associated Papers
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.
Xu J et al.
The Journal of Pathology. Clinical Research, 2018
Identification of Fc Gamma Receptor Glycoforms That Produce Differential Binding Kinetics for Rituximab.
Hayes JM et al.
Molecular & Cellular Proteomics : Mcp, 2017
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M et al.
Plos One, 2013
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
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