The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation - Concepedia

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The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

DOI Full Paper Access

127

Citations

16

References

2000

Year

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans W. Verheijen, Grazia M.S. Mancini, Jan‐Eric Månsson, Perttì Aula, Leena Peltonen

The American Journal of Human Genetics

Genetic DisorderSlc17a5-gene Mutations ResultingGeneticsHuman PolymorphismMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicineLysosomal Storage DiseaseVariant InterpretationGenotype-phenotype Correlation

References

	Year	Citations

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