<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>

Tarih

Yazarlar

Takahashi, Taiko

Sassa, Takayuki

Akcapinar, Gunseli Bayram

Yararbas, Kanay

Iseri, Sibel Aylin Ugur

Akcakaya, Nihan Hande

Yayınevi

Anahtar kelimeler

Ceramide, ELOVL1, Exon skipping, Autosomal recessive, Hypomyelinating, Ichthyosis, Cerebral palsy

URI

https://openaccess.acibadem.edu.tr/handle/11443/6946

Koleksiyonlar

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