Pubmed ID:
30981218
Year:
2019
Month:
07
Volume:
40
Issue:
7
Citation:
Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR. A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant. HUMAN MUTATION 40 (7) : 893 - 898(2019) PubMed
Pubmed Link:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30981218&dopt=Abstract