檢索結果 - Lin, Brian C.
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The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia 由 Hamasaki-Katagiri, Nobuko, Lin, Brian C., Simon, Jonathan, Hunt, Ryan C., Schiller, Tal, Russek-Cohen, Estelle, Komar, Anton A., Bar, Haim, Kimchi-Sarfaty, Chava
出版 2016Text -
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ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import 由 Lin, Brian C, Phung, Trong H, Higgins, Nicole R, Greenslade, Jessie E, Prado, Miguel A, Finley, Daniel, Karbowski, Mariusz, Polster, Brian M, Monteiro, Mervyn J
出版 2021Text -
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Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B 由 Simhadri, Vijaya L., Katagiri, Nobuko H., Lin, Brian C., Hunt, Ryan, Jha, Sujata, Tseng, Sandra C., Wu, Andrew, Bentley, Amber A., Zichel, Ran, Lu, Qi, Zhu, Lily, Freedberg, Darón I., Monroe, Dougald M., Sauna, Zuben E., Peters, Robert, Komar, Anton A., Kimchi-Sarfaty, Chava
出版 2016Text