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Keywords: Gene mutation
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Journal Articles
Subject Area:
Further Areas
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2018) 51 (3): 1301–1312.
Published Online: 27 November 2018
..., instructions or products referred to in the content or advertisements. Early repolarization syndrome Early repolarization pattern KCNH2 Gene mutation Sudden cardiac death Nucleotide change identified in ERS proband was introduced into hERG cDNA cloned in pGFPires as described previously [ 11...
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
..., methods, instructions or products referred to in the content or advertisements. Cornelia de Lange Syndrome HDAC8 Gene mutation Enzymatic activity X-chromosome inactivation Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth...
Journal Articles
Subject Area:
Further Areas
Journal:
Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2017) 43 (4): 1718–1730.
Published Online: 18 October 2017
...Yu Tong; Shizhen Shen; Hui Jiang; Zhi Chen Gene mutation has been considered a research hotspot, and the rapid development of biomedicine has enabled significant advances in the evaluation of gene mutations. The advent of digital polymerase chain reaction (dPCR) elevates the detection of gene...