Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Division of Medical Genetics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
J
J
Tomczak
E E
EE
Grebner
D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D004277:DNA, Single-Stranded / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D017384:Sequence Deletion; D013661:Tay-Sachs Disease / Q000201:enzymology* / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D017931:DNA Primers; D004277:DNA, Single-Stranded; D001619:beta-N-Acetylhexosaminidases