A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
Cao, Z
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. [electronic resource] - American journal of human genetics Dec 1993 - 1198-205 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. [electronic resource] - American journal of human genetics Dec 1993 - 1198-205 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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