يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Sujatha M. Jagadeesh"', وقت الاستعلام: 0.82s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Mutations in ARSB in MPS VI patients in India

    المؤلفون: Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan

    المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)

    مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Maroteaux–Lamy syndrome, Arylsulfatase B (ARSB), Inborn error of metabolism (IEM), Lysosomal storage disorder (LSD), Lysosomal enzyme, Mutations, India, Active site, Medicine (General), R5-920, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S221442691530015X; https://doaj.org/toc/2214-4269

    URL الوصول: https://doaj.org/article/608ba39bbeb644a3921624d1b9905038

    View record from ScienceDirect Full Text Finder
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  2. 2
    Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

    المؤلفون: Amy Barrett, Sian Ellard, Syed Aman, Khadiga Y. Eltonbary, Hussein Alawneh, Irina Tiron, Kevin Colclough, Wojciech Młynarski, Sujatha M. Jagadeesh, Martijn van de Bunt, Kathryn Noyes, Andrew T. Hattersley, Neeta Deshpande, Sarah E. Flanagan, Teoman Akcay, Nancy Samir Elbarbary, Melanie Kershaw, Catherine J. Peters, Anne Raimondo, Mohammad A. Abduljabbar, Bilgin Yüksel, Waqas I. Khan, Alisson Chatelas, Huseyin Demirbilek, Nick Shaw, Parijat De, Soren K. Thomsen, Frank Eickmeier, Lesley Turner, Anna L. Gloyn, Mahmoud Al-Zyoud, Ali J. Chakera, Louise Bath, Doga Turkkahraman, Elisa De Franco, Erdem Durmaz, Marc Fillion

    المساهمون: Çukurova Üniversitesi

    المصدر: Human Molecular Genetics

    مصطلحات موضوعية: Male, medicine.medical_specialty, Hot Temperature, Genotype, Mutation, Missense, Biology, medicine.disease_cause, Severity of Illness Index, Neonatal diabetes mellitus, Internal medicine, Diabetes mellitus, Enzyme Stability, Glucokinase, Diabetes Mellitus, Genetics, medicine, Birth Weight, Humans, Missense mutation, Age of Onset, Allele, Child, Molecular Biology, Genetics (clinical), Enzyme Assays, Mutation, Homozygote, Infant, Newborn, Infant, Articles, General Medicine, medicine.disease, Recombinant Proteins, 3. Good health, Kinetics, Phenotype, Endocrinology, Child, Preschool, Female, Age of onset

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855640b90cb234214b4922385ed52f73
    https://hdl.handle.net/20.500.12605/18560

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