Associated Papers
[Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].
Mizuguchi M
Seikagaku. the Journal of Japanese Biochemical Society, 2015
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
Mizuguchi M et al.
Nature Communications, 2014
Renpenning syndrome comes into focus.
Stevenson RE et al.
American Journal of Medical Genetics. Part A, 2005
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I et al.
European Journal of Medical Genetics, 0
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