机译：识别的致病性intronic KIF5A突变的ALS-FTD家族
From the Neuromuscular Diseases Research Section (S.S-A, B.J.T.), Laboratory of Neurogenetics, NIA;
KIF5A gene; kindred; IntronsMutation;
机译：Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene
机译：Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome
机译：mutation of the gene encoding a major outer-membrane protein in Xanthomonas campestris pv. campestris causes pleiotropic effects, including loss of pathogenicity
