Two novel compound heterozygous mutations in OPA3 in two...

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

Lam, Christina, Gallo, Linda K., Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E., Wolfe, Lynne, Gahl, William A., Huizing, Marjan
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Volume:
1
Year:
2014
Language:
english
Journal:
Molecular Genetics and Metabolism Reports
DOI:
10.1016/j.ymgmr.2014.02.003
File:
PDF, 327 KB
english, 2014
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