MOLECULAR BASIS OF INHERITED ENZYME DEFECTS

被引:8
|
作者
DREYFUS, JC
机构
关键词
D O I
10.1016/S0300-9084(72)80138-X
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:559 / &
相关论文
共 50 条
  • [41] Molecular basis of inherited growth hormone resistance in childhood
    Amselem, S
    Sobrier, ML
    Dastot, F
    Duquesnoy, P
    Duriez, B
    Goossens, M
    BAILLIERES CLINICAL ENDOCRINOLOGY AND METABOLISM, 1996, 10 (03): : 353 - 369
  • [42] Molecular basis of platelet granule defects
    Yao, Helen H. Y.
    Kahr, Walter H. A.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2025, 23 (02) : 381 - 393
  • [44] Update on enzyme and molecular defects in porphyria
    Elder, GH
    PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE, 1998, 14 (02) : 66 - 69
  • [45] A common molecular basis for three inherited kidney stone diseases
    Lloyd, SE
    Pearce, SHS
    Fisher, SE
    Steinmeyer, K
    Schwappach, B
    Scheinman, SJ
    Harding, B
    Bolino, A
    Devoto, M
    Goodyer, P
    Rigden, SPA
    Wrong, O
    Jentsch, TJ
    Craig, IW
    Thakker, RV
    NATURE, 1996, 379 (6564) : 445 - 449
  • [46] Molecular and cellular basis of genetically inherited skeletal muscle disorders
    Dowling, James J.
    Weihl, Conrad C.
    Spencer, Melissa J.
    NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2021, 22 (11) : 713 - 732
  • [47] Investigations of the molecular basis of inherited motor neuron disease.
    Brown, RH
    JOURNAL OF NEUROCHEMISTRY, 1998, 70 : S79 - S79
  • [48] Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses
    Dubot, Patricia
    Sabourdy, Frederique
    Rybova, Jitka
    Medin, Jeffrey A.
    Levade, Thierry
    CLINICA CHIMICA ACTA, 2019, 495 : 457 - 466
  • [49] Molecular and cellular basis of genetically inherited skeletal muscle disorders
    James J. Dowling
    Conrad C. Weihl
    Melissa J. Spencer
    Nature Reviews Molecular Cell Biology, 2021, 22 : 713 - 732
  • [50] Special Issue "Molecular Basis of Inherited Diseases in Companion Animals"
    Friedenberg, Steven G.
    Bannasch, Danika L.
    GENES, 2021, 12 (01)