Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene. [electronic resource]
Producer: 19931028Description: 525-6 p. digitalISSN:- 0888-7543
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Exons
- Galactosemias -- enzymology
- Gene Expression Regulation, Enzymologic
- Humans
- Infant
- Introns
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Point Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger -- genetics
- UTP-Hexose-1-Phosphate Uridylyltransferase -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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