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Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
Kwak, Jae Eun; Son, Mi-Young; Son, Ye Seul; Son, Myung Jin; Cho, Yee Sook.
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  • Kwak JE; Stem Cell Research Center, KRIBB, 111 Gwahangno, Yuseong-gu, Daejeon 305-806, Republic of Korea.
  • Son MY; Stem Cell Research Center, KRIBB, 111 Gwahangno, Yuseong-gu, Daejeon 305-806, Republic of Korea; Department of Functional Genomics, University of Science & Technology, 217 Gajungro, Yuseong-gu, Daejeon 305-350, Republic of Korea.
  • Son YS; Stem Cell Research Center, KRIBB, 111 Gwahangno, Yuseong-gu, Daejeon 305-806, Republic of Korea.
  • Son MJ; Stem Cell Research Center, KRIBB, 111 Gwahangno, Yuseong-gu, Daejeon 305-806, Republic of Korea; Department of Functional Genomics, University of Science & Technology, 217 Gajungro, Yuseong-gu, Daejeon 305-350, Republic of Korea.
  • Cho YS; Stem Cell Research Center, KRIBB, 111 Gwahangno, Yuseong-gu, Daejeon 305-806, Republic of Korea; Department of Functional Genomics, University of Science & Technology, 217 Gajungro, Yuseong-gu, Daejeon 305-350, Republic of Korea. Electronic address: june@kribb.re.kr.
Biochem Biophys Res Commun ; 457(4): 554-60, 2015 Feb 20.
Article en En | MEDLINE | ID: mdl-25600812
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Gangliosidosis GM1 / Beta-Galactosidasa / Mucolipidosis / Neuraminidasa Límite: Animals / Humans Idioma: En Revista: Biochem Biophys Res Commun Año: 2015 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Gangliosidosis GM1 / Beta-Galactosidasa / Mucolipidosis / Neuraminidasa Límite: Animals / Humans Idioma: En Revista: Biochem Biophys Res Commun Año: 2015 Tipo del documento: Article