Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

TitleIdentification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Publication TypeJournal Article
AuthorsJohnson, K, Topf, A, Bertoli, M, Phillips, L, Claeys, KG, Stojanovic, VRakocevic, Perić, S, Hahn, A, Maddison, P, Akay, E, Bastian, AE, Łusakowska, A, Kostera-Pruszczyk, A, Lek, M, Xu, L, MacArthur, DG, Straub, V
PubMed ID29149851
PubMed Central IDPMC5693551
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
UM1 HG008900 / HG / NHGRI NIH HHS / United States
UM1 HG008900 / EY / NEI NIH HHS / United States
UM1 HG008900 / EY / NEI NIH HHS / United States
UM1 HG008900 / HL / NHLBI NIH HHS / United States
UM1 HG008900 / HL / NHLBI NIH HHS / United States
175083 / / Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja (RS) / International