يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Guanosine Triphosphatase"', وقت الاستعلام: 1.01s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

    المؤلفون: Khare, Leena, Strizheva, Galina D, Bailey, Julia N, Au, Kit-Sing, Northrup, Hope, Smith, Moyra, Smalley, Susan L, Henske, Elizabeth Petri

    المصدر: Journal of Medical Genetics. 38(5)

    مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Base Sequence, Exons, GTPase-Activating Proteins, Genes, Dominant, Humans, Mental Disorders, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Repressor Proteins, Sequence Homology, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, guanosine triphosphatase activating protein, clinical article, exon, human, letter, missense mutation, priority journal, tuberous sclerosis, Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/5jv3t9fhTest

    View record in eScholarship

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggvee-Melchiore-Clausen locus.

    المؤلفون: Alshammari, Muneera J., Al-Otaibi, Lefian, Alkuraya, Fowzan S.

    المصدر: Journal of Medical Genetics; Jul2012, Vol. 49 Issue 7, p455-461, 7p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph

    مصطلحات موضوعية: GENETIC mutation, ACHONDROPLASIA, MUCOPOLYSACCHARIDOSIS, MEDICAL genetics, GUANOSINE triphosphatase, IMMUNOFLUORESCENCE, IMMUNOBLOTTING


    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث