Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Harmon, D L
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. [electronic resource] - Journal of medical genetics Feb 1993 - 123-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.30.2.123 doi
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
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. [electronic resource] - Journal of medical genetics Feb 1993 - 123-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.30.2.123 doi
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