21 results for "Yu-Ri Lee"

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee; Kamal Khan; Kim Armfield-Uhas et al.

Nature Communications, Vol. 11 No. 1 · 2020 · English · DOAJ Scopus

Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knockout zebrafish suggesting it is a spliceosomopathy.