β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in

Name: β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in
Author: Blomqvist, Maria

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in — المؤلف: Blomqvist, Maria — Cold Spring Harbor molecular case studies 20200526

المؤلف: Blomqvist, Maria
النشر: Cold Spring Harbor molecular case studies 20200526
الموضوعات: Adolescent؛ Angiokeratoma؛ DNA Copy Number Variations؛ DNA, Complementary؛ Exons؛ Female؛ Gene Duplication؛ Hearing Loss