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Keywords: HDAC8
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Journal Articles
A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome
Open AccessSubject Area:
Further Areas
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2018) 47 (6): 2388–2395.
Published Online: 10 July 2018
...-polyacrylamide gel electrophoresis, and enzyme activity assay. Results: This patient was found to harbor a novel missense mutation (c.806T>G, p.I269R) in the coding region of the HDAC8 gene, which was predicted to be pathogenic. Compared with other CdLS patients with HDAC8 mutation, the patient lacked typical...
