Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Titel:
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Auteur:
Chai, Guoliang Webb, Alice Li, Chen Antaki, Danny Lee, Sangmoon Breuss, Martin W. Lang, Nhi Stanley, Valentina Anzenberg, Paula Yang, Xiaoxu Marshall, Trevor Gaffney, Patrick Wierenga, Klaas J. Chung, Brian Hon-Yin Tsang, Mandy Ho-Yin Pais, Lynn S. Lovgren, Alysia Kern VanNoy, Grace E. Rehm, Heidi L. Mirzaa, Ghayda Leon, Eyby Diaz, Jullianne Neumann, Alexander Kalverda, Arnout P. Manfield, Iain W. Parry, David A. Logan, Clare V. Johnson, Colin A. Bonthron, David T. Valleley, Elizabeth M.A. Issa, Mahmoud Y. Abdel-Ghafar, Sherif F. Abdel-Hamid, Mohamed S. Jennings, Patricia Zaki, Maha S. Sheridan, Eamonn Gleeson, Joseph G.