Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. [electronic resource]
Producer: 19930408Description: 123-8 p. digitalISSN:- 0022-2593
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA -- genetics
- DNA Mutational Analysis
- Exons
- Female
- Heterozygote
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Protein Conformation
- Sequence Alignment
- Tay-Sachs Disease -- enzymology
- beta-N-Acetylhexosaminidases -- chemistry
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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