Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
SPTBN2 gene
neurodegeneration
non-progressive congenital ataxia
β-III spectrin
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
02 Mar 2021
02 Mar 2021
Historique:
received:
29
01
2021
revised:
19
02
2021
accepted:
25
02
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
13
5
2021
Statut:
epublish
Résumé
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (
Identifiants
pubmed: 33801522
pii: ijms22052505
doi: 10.3390/ijms22052505
pmc: PMC7958857
pii:
doi:
Substances chimiques
SPTBN2 protein, human
0
Spectrin
12634-43-4
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI18/00147
Organisme : Conselleria de Cultura, Educación y Ciencia, Generalitat Valenciana
ID : PROMETEO/2018/135
Organisme : Ministerio de Educación, Cultura y Deporte
ID : FPU15/00964
Organisme : Spanish Foundation Per Amor a l'Art
ID : FPAA
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