Spinal muscular atrophy type I associated with a novel <i>SMN1</i> splicing variant that disrupts the expression of the functional transcript.

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作者： Christina,Votsi ^[1] ; Pantelitsa,Koutsou ^[1] ; Antonis,Ververis ^[1] ; Anthi,Georghiou ^[1] ; Paschalis,Nicolaou ^[1] ; George,Tanteles ^[2] ; Kyproula,Christodoulou ^[1]

作者单位： Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ^[1] Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ^[2]

关键词 Cypriot population novel variant spinal muscular atrophy splicing dysregulation transcript analysis

DOI 10.3389/fneur.2023.1241195

PMID 37799281

发布时间 2023-10-26

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Frontiers in neurology

2023年14卷

1241195页

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Spinal muscular atrophy type I associated with a novel <i>SMN1</i> splicing variant that disrupts the expression of the functional transcript.

Frontiers in neurology

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Frontiers in neurology

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Spinal muscular atrophy type I associated with a novel <i>SMN1</i> splicing variant that disrupts the expression of the functional transcript.

Frontiers in neurology

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Frontiers in neurology

相关期刊

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