Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

TitleMutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Publication TypeJournal Article
AuthorsBreuss, MW, Nguyen, A, Song, Q, Nguyen, T, Stanley, V, James, KN, Musaev, D, Chai, G, Wirth, SA, Anzenberg, P, George, RD, Johansen, A, Ali, S, Zia-Ur-Rehman, M, Sultan, T, Zaki, MS, Gleeson, JG
PubMed ID30032983
PubMed Central IDPMC6080764
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
UM1 HG006504 / HG / NHGRI NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
P30 NS047101 / NS / NINDS NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States