The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. [electronic resource]
Producer: 20001031Description: 832-40 p. digitalISSN:- 0002-9297
- Age of Onset
- Alleles
- Amino Acid Substitution -- genetics
- Base Sequence
- DNA Mutational Analysis
- Exons -- genetics
- Finland -- epidemiology
- Founder Effect
- Gene Frequency -- genetics
- Genetic Testing
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Introns -- genetics
- Lysosomal Storage Diseases -- epidemiology
- Membrane Transport Proteins -- chemistry
- Mutation -- genetics
- N-Acetylneuraminic Acid -- metabolism
- Organic Anion Transporters
- Phenotype
- Polymerase Chain Reaction
- Protein Conformation
- RNA, Messenger -- analysis
- Sweden -- epidemiology
- Symporters
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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