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1. Kolodny, EH
   Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction
   TAY-SACHS DISEASE
   
   E.H. Kolodny, "Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction", ADV GENETIC, 44, 2001, pp. 101-126
2. Suzuki, K
   Recognition and delineation of beta-hexosaminidase alpha-chain variants: Ahistorical and personal perspective
   TAY-SACHS DISEASE
   
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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
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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
   
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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
   
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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
   
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8. TSE R; VAVOUGIOS G; HOU YM; MAHURAN DJ
   IDENTIFICATION OF AN ACTIVE ACIDIC RESIDUE IN THE CATALYTIC SITE OF BETA-HEXOSAMINIDASE
   Biochemistry
   
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9. HOU YM; TSE R; MAHURAN DJ
   DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A
   Biochemistry
   
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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
    
    M.M. Richard et al., "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, 55(1), 1995, pp. 74-76
11. PELEG L; MELTZER F; KARPATI M; GOLDMAN B
    GM2 GANGLIOSIDOSIS B1 VARIANT - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF HEXOSAMINIDASE-A
    Biochemical and molecular medicine
    
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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
    
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13. LEMOS M; PINTO R; RIBEIRO G; RIBEIRO H; LOPES L; MIRANDA MCS
    PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT
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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
    
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15. TANAKA A; SAKAZAKI H; MURAKAMI H; ISSHIKI G; SUZUKI K
    MOLECULAR-GENETICS OF TAY-SACHS-DISEASE IN JAPAN
    Journal of inherited metabolic disease
    
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16. BENNINGER C; ULLRICHBOTT B; ZHAN SS; SCHMITT HP
    G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT
    Clinical neuropathology
    
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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
    
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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
    
    A. Tanaka et al., "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, 192(2), 1993, pp. 539-546
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
    
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