Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein

Hee Keun Lee, Mee Hyun Song, Myengmo Kang, Jung Tae Lee, Kyoung Ah Kong, Su Jin Choi, Kyu Yup Lee, Hanka Venselaar, Gert Vriend, Won Sang Lee, Hong Joon Park, Taeg Kyu Kwon, Jinwoong Bok, Un Kyung Kim

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Biochemistry, Genetics and Molecular Biology