Torthaí cuardaigh - Lin, Brian C.
- 1 - 5 toradh as 5 á dtaispeáint
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UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD de réir Lin, Brian C., Higgins, Nicole R., Phung, Trong H., Monteiro, Mervyn J.
Foilsithe / Cruthaithe 2022Téacs -
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The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia de réir Hamasaki-Katagiri, Nobuko, Lin, Brian C., Simon, Jonathan, Hunt, Ryan C., Schiller, Tal, Russek-Cohen, Estelle, Komar, Anton A., Bar, Haim, Kimchi-Sarfaty, Chava
Foilsithe / Cruthaithe 2016Téacs -
4
ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import de réir 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
Foilsithe / Cruthaithe 2021Téacs -
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Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B de réir 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
Foilsithe / Cruthaithe 2016Téacs