Aula, N <br/><br/>
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.  [electronic resource] 

 -  American journal of human genetics  Oct 2000 
 - 832-40 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/303077  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Alleles<br/>Amino Acid Substitution--genetics<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Finland--epidemiology<br/>Founder Effect<br/>Gene Frequency--genetics<br/>Genetic Testing<br/>Heterozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Introns--genetics<br/>Lysosomal Storage Diseases--epidemiology<br/>Membrane Transport Proteins--chemistry<br/>Mutation--genetics<br/>N-Acetylneuraminic Acid--metabolism<br/>Organic Anion Transporters<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Protein Conformation<br/>RNA, Messenger--analysis<br/>Sweden--epidemiology<br/>Symporters