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Single point mutation in Rabenosyn-5 in a female with intra..:
Stockler, Sylvia
;
Corvera, Silvia
;
Lambright, David G
...
Link to Article in PubMed. , 2022
Link:
https://doi.org/10.1186/s13023-014-0141-5
RT Journal T1
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
UL https://suche.suub.uni-bremen.de/peid=base-ftunivmassmm:oai:repository.escholarship.umassmed.edu:20.500.14038_39645&Exemplar=1&LAN=DE A1 Stockler, Sylvia A1 Corvera, Silvia A1 Lambright, David G A1 Fogarty, Kevin E A1 Nosova, Ekaterina A1 Leonard, Deborah Marie A1 Steinfeld, Robert A1 Ackerley, Cameron A1 Shyr, Casper A1 Au, Nicolas A1 Selby, Kathrin A1 van Allen, Margot A1 Vallance, Hilary A1 Wevers, Ron A1 Watkins, David A1 Rosenblatt, David A1 Ross, Colin J A1 Conibear, Elizabeth A1 Wasserman, Wyeth A1 van Karnebeek, Clara YR 2022 K1 Congenital K1 Hereditary K1 and Neonatal Diseases and Abnormalities K1 Genetics K1 Molecular Biology K1 Molecular Genetics JF Link to Article in PubMed LK http://dx.doi.org/https://doi.org/10.1186/s13023-014-0141-5 DO https://doi.org/10.1186/s13023-014-0141-5 SF ELIB - SuUB Bremen
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