Browsing by Keyword : Codon, Nonsense

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Showing results 1 to 2 of 2

Publication YearTitleAJOU
Author
2013Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.정윤석김옥화
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
1

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