Works matching DE "CARRIER protein genetics"


Results: 89
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    Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

    Published in:
    Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
    By:
    • Abrams, Alexander J;
    • Ahmed, Zubair M;
    • Antonellis, Anthony;
    • Zimmerman, Holly H;
    • Abdul-Rahman, Omar A;
    • Yang, Yaping;
    • Downes, Susan M;
    • Fontanesi, Flavia;
    • Barrientos, Antonio;
    • Németh, Andrea H;
    • Hufnagel, Robert B;
    • Sund, Kristen L;
    • Wang, Xinjian;
    • Krueger, Laura A;
    • Peng, Yanyan;
    • Prada, Carlos E;
    • Prows, Cynthia A;
    • Schorry, Elizabeth K;
    • Huang, Taosheng;
    • Rebelo, Adriana
    Publication type:
    Article
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    Bone health and SATB2‐associated syndrome.

    Published in:
    Clinical Genetics, 2018, v. 93, n. 3, p. 588, doi. 10.1111/cge.13121
    By:
    • Zarate, Y. A.;
    • Steinraths, M.;
    • Matthews, A.;
    • Smith, W. E.;
    • Sun, A.;
    • Wilson, L. C.;
    • Brain, C.;
    • Allgove, J.;
    • Jacobs, B.;
    • Fish, J. L.;
    • Powell, C. M.;
    • Wasserman, W. W.;
    • Van Karnebeek, C. D.;
    • Wakeling, E. L.;
    • Ma, N. S.
    Publication type:
    Article
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    Semaphorin 3A: A Potential Target for Low Back Pain.

    Published in:
    Frontiers in Aging Neuroscience, 2015, v. 7, p. 1, doi. 10.3389/fnagi.2015.00216
    By:
    • Pengbin Yin;
    • Houchen Lv;
    • Lihai Zhang;
    • Licheng Zhang;
    • Peifu Tang;
    • Hegde, Vijay Karkal;
    • Sanzarello, Ilaria
    Publication type:
    Article
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    GATA2 mutations in patients with acute myeloid leukemia-paired samples analyses show that the mutation is unstable during disease evolution.

    Published in:
    Annals of Hematology, 2015, v. 94, n. 2, p. 211, doi. 10.1007/s00277-014-2208-8
    By:
    • Hou, Hsin-An;
    • Lin, Yun-Chu;
    • Kuo, Yuan-Yeh;
    • Chou, Wen-Chien;
    • Lin, Chien-Chin;
    • Liu, Chieh-Yu;
    • Chen, Chien-Yuan;
    • Lin, Liang-In;
    • Tseng, Mei-Hsuan;
    • Huang, Chi-Fei;
    • Chiang, Ying-Chieh;
    • Liu, Ming-Chih;
    • Liu, Chia-Wen;
    • Tang, Jih-Luh;
    • Yao, Ming;
    • Huang, Shang-Yi;
    • Ko, Bor-Sheng;
    • Hsu, Szu-Chun;
    • Wu, Shang-Ju;
    • Tsay, Woei
    Publication type:
    Article
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