Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.

Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26.

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subject areas

Adult
Alleles
Amino Acid Sequence
Animals
beta-N-Acetylhexosaminidases
Cell Line
Exons
Female
Genetic Carrier Screening
Hexosaminidase A
Hexosaminidase B
Humans
Macromolecular Substances
Male
Motor Neuron Disease
Point Mutation
Protein Structure, Secondary
Sandhoff Disease
Serine
Transfection
Tyrosine

authors with profiles

Elizabeth Berry-Kravis