An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
| Title: | An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA |
|---|---|
| Authors: | Vuillaumier-Barrot, SandrineAff1, Aff2; Dupré, ThierryAff1, Aff2; Andriantsihoarana, TiffanyAff1; Desportes, VincentAff3; Cheillan, DavidAff3; Moore, Stuart E. H.Aff1; Chantret, IsabelleAff1, IDs13023025035354_cor1 |
| Source: | Orphanet Journal of Rare Diseases. 20(1) |
| Database: | Springer Nature Journals |