Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In a paper appearing in Human Genetics and Genomics Advances, the researchers have published findings that identify the faulty mutated gene. By exploring the biochemical consequences of the mutation, the investigators also showed that this typo in the genetic code interferes with normal cellular function, as expected of an unknown congenital disorder of glycosylation (CDG).
This article was originally published on MedicalXpress.com
