1 results match your criteria: "Microbiology and Statistics Faculty of Biology University of Barcelona IBUB[Affiliation]"
The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Clin Case Rep
August 2018
Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
In line with a recent study showing that mutations found in the common population cannot be ruled out as pathogenic, we have identified the p.Gly646Trpfs*12 mutation-present in 132 individuals in ExAC-as a very probable cause of the disease in a Bohring-Opitz syndrome patient.
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