Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
Taiko Takahashi, Sevcan Mercan, Takayuki Sassa, Günseli Bayram Akçapınar, Kanay Yararbaş, Seda Süsgün, Sı̇bel Aylı̇n Uğur İşerı̇, Akio Kihara, Nihan Hande Akçakaya
Topics & Concepts
Exon skippingExonGeneticsIchthyosisRNA splicingExome sequencingDisease gene identificationBiologySplice site mutationMutationMedicineGeneAlternative splicingRNASkin and Cellular Biology ResearchHereditary Neurological DisordersSphingolipid Metabolism and Signaling