Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.
期刊介绍:
Published by Elsevier from 2016
Pathology is the official journal of the Royal College of Pathologists of Australasia (RCPA). It is committed to publishing peer-reviewed, original articles related to the science of pathology in its broadest sense, including anatomical pathology, chemical pathology and biochemistry, cytopathology, experimental pathology, forensic pathology and morbid anatomy, genetics, haematology, immunology and immunopathology, microbiology and molecular pathology.