Article
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Neurology - 24 Oct 2017
Hamilton Eline M C, Bertini Enrico, Kalaydjieva Luba, Morar Bharti, Dojčáková Dana, Liu Judy, Vanderver Adeline, Curiel Julian, Persoon Claudia M, Diodato Daria, Pinelli Lorenzo, van der Meij Nathalie L, Plecko Barbara, Blaser Susan, Wolf Nicole I, Waisfisz Quinten, Abbink Truus E M, van der Knaap Marjo S
Abstract excerpt
OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the...
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