A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. [electronic resource]
Producer: 19931230Description: 1198-205 p. digitalISSN:- 0002-9297
- Adult
- Amino Acid Sequence
- Base Sequence
- Electrophoresis, Agar Gel
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Hexosaminidase A
- Humans
- Jews
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Sequence Homology, Amino Acid
- Tay-Sachs Disease -- epidemiology
- beta-N-Acetylhexosaminidases -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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