Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
John E RichterMichael T ZimmermannPatrick R BlackburnAhmed N MohammadEric W KleeLaura M PollardColleen F MacmurdoPaldeep S AtwalThomas R CaulfieldPublished in: Molecular genetics & genomic medicine (2018)
We have described a novel, pathogenic in-frame deletion of GLB1 in a patient with GM1 gangliosidosis type II.