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La ricerca find articoli where soggetti phrase all words 'GM2-GANGLIOSIDOSIS-B1 VARIANT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 19 riferimenti
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    1. Kolodny, EH
      Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction

      TAY-SACHS DISEASE
    2. Suzuki, K
      Recognition and delineation of beta-hexosaminidase alpha-chain variants: Ahistorical and personal perspective

      TAY-SACHS DISEASE
    3. Perez, LF; Ribeiro, HM; Casal, JA; Pinto, RA; Miranda, MCS; Tutor, JC
      Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

      CLINICA CHIMICA ACTA
    4. HOU YM; MCINNES B; HINEK A; KARPATI G; MAHURAN D
      A PRO(504)-]SER SUBSTITUTION IN THE BETA-SUBUNIT OF BETA-HEXOSAMINIDASE A INHIBITS ALPHA-SUBUNIT HYDROLYSIS OF G(M2) GANGLIOSIDE, RESULTINGIN CHRONIC SANDHOFF-DISEASE

      The Journal of biological chemistry
    5. MYEROWITZ R
      TAY-SACHS DISEASE-CAUSING MUTATIONS AND NEUTRAL POLYMORPHISMS IN THE HEX-A GENE

      Human mutation
    6. TEWS I; PERRAKIS A; OPPENHEIM A; DAUTER Z; WILSON KS; VORGIAS CE
      BACTERIAL CHITOBIASE STRUCTURE PROVIDES INSIGHT INTO CATALYTIC MECHANISM AND THE BASIS OF TAY-SACHS-DISEASE

      Nature structural biology
    7. RIBEIRO MG; SONIN T; PINTO RA; FONTES A; RIBEIRO H; PINTO E; PALMEIRA MM; SAMIRANDA MC
      CLINICAL, ENZYMATIC, AND MOLECULAR CHARACTERIZATION OF A PORTUGUESE FAMILY WITH A CHRONIC FORM OF G(M2)-GANGLIOSIDOSIS B1 VARIANT

      Journal of Medical Genetics
    8. TSE R; VAVOUGIOS G; HOU YM; MAHURAN DJ
      IDENTIFICATION OF AN ACTIVE ACIDIC RESIDUE IN THE CATALYTIC SITE OF BETA-HEXOSAMINIDASE

      Biochemistry
    9. HOU YM; TSE R; MAHURAN DJ
      DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A

      Biochemistry
    10. RICHARD MM; ERENBERG G; TRIGGSRAINE BL
      AN A-TO-G MUTATION AT THE -POSITION OF INTRON-8 OF THE HEXA GENE IS ASSOCIATED WITH EXON-8 SKIPPING AND TAY-SACHS-DISEASE(3)

      Biochemical and molecular medicine
    11. PELEG L; MELTZER F; KARPATI M; GOLDMAN B
      GM2 GANGLIOSIDOSIS B1 VARIANT - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF HEXOSAMINIDASE-A

      Biochemical and molecular medicine
    12. RIBEIRO MG; PINTO R; MIRANDA MCS; SUZUKI K
      TAY-SACHS-DISEASE - INTRON-7 SPLICE JUNCTION MUTATION IN 2 PORTUGUESEPATIENTS

      Biochimica et biophysica acta. Molecular basis of disease
    13. LEMOS M; PINTO R; RIBEIRO G; RIBEIRO H; LOPES L; MIRANDA MCS
      PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT

      Prenatal diagnosis
    14. NAVON R; KHOSRAVI R; KORCZYN T; MASSON M; SONNINO S; FARDEAU M; EYMARD B; LEFEVRE M; TURPIN JC; RONDOT P; BAUMANN N
      A NEW MUTATION IN THE HEXA GENE ASSOCIATED WITH A SPINAL MUSCULAR-ATROPHY PHENOTYPE

      Neurology
    15. TANAKA A; SAKAZAKI H; MURAKAMI H; ISSHIKI G; SUZUKI K
      MOLECULAR-GENETICS OF TAY-SACHS-DISEASE IN JAPAN

      Journal of inherited metabolic disease
    16. BENNINGER C; ULLRICHBOTT B; ZHAN SS; SCHMITT HP
      G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT

      Clinical neuropathology
    17. SHUKRY A; GOLDMAN B; SHIHAB S; PELEG L
      PRENATAL AND POSTNATAL STUDIES OF A LATE INFANTILE GM2 GANGLIOSIDOSISIN A FAMILY OF SYRIAN ORIGIN - A POSSIBLE B1 VARIANT

      Israel journal of medical sciences
    18. TANAKA A; SAKURABA H; ISSHIKI G; SUZUKI K
      THE MAJOR MUTATION AMONG JAPANESE PATIENTS WITH INFANTILE TAY-SACHS DISEASE - A G-TO-T TRANSVERSION AT THE ACCEPTOR SITE OF INTRON 5 OF THEBETA-HEXOSAMINIDASE ALPHA-GENE

      Biochemical and biophysical research communications
    19. BROWN CA; MAHURAN DJ
      BETA-HEXOSAMINIDASE ISOZYMES FROM CELLS COTRANSFECTED WITH ALPHA-CDNAAND BETA-CDNA CONSTRUCTS - ANALYSIS OF THE ALPHA-SUBUNIT MISSENSE MUTATION ASSOCIATED WITH THE ADULT FORM OF TAY-SACHS-DISEASE

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 05:09:04