Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
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im Januar 2019 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 17 January 2019
@en
name
Mutations in ACTL6B, coding fo ...... ination and cerebellar atrophy
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type
label
Mutations in ACTL6B, coding fo ...... ination and cerebellar atrophy
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prefLabel
Mutations in ACTL6B, coding fo ...... ination and cerebellar atrophy
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P2093
P50
P1433
P1476
Mutations in ACTL6B, coding fo ...... ination and cerebellar atrophy
@en
P2093
Eliana Salvo
Lucia Grillo
Lucia Saccuzzo
Martina Miceli
Maurizio Elia
Ornella Galesi
Pinella Failla
P304
P356
10.1007/S00439-019-01972-3
P577
2019-01-17T00:00:00Z