Jos Jansen and colleagues present an exome sequencing analysis in a family with siblings affected by abnormal Golgi glycosylation. They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c.92T>C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c.31G>T (p.Asp11Tyr).
Jansen, Jos C. et al. The American Journal of Human Genetics.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague