Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain disease (MEB). Mut...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I., Mora, M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3405532/
https://ncbi.nlm.nih.gov/pubmed/22554691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2012.04.008
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg