The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation
- DOI
- 10.1086/303077
- Published
- 2000-10
- Container
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1086/303077,
title = {The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation},
author = {Nina Aula and Pirjo Salomäki and Ritva Timonen and Frans Verheijen and Grazia Mancini and Jan-Eric Månsson and Pertti Aula and Leena Peltonen},
year = {2000},
journal = {The American Journal of Human Genetics},
doi = {10.1086/303077},
url = {https://doi.org/10.1086/303077}
}RIS
TY - JOUR TI - The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation AU - Nina Aula AU - Pirjo Salomäki AU - Ritva Timonen AU - Frans Verheijen AU - Grazia Mancini AU - Jan-Eric Månsson AU - Pertti Aula AU - Leena Peltonen PY - 2000 JO - The American Journal of Human Genetics DO - 10.1086/303077 UR - https://doi.org/10.1086/303077 ER -
APA
Aula, N., Salomäki, P., Timonen, R., Verheijen, F., Mancini, G., Månsson, J., Aula, P., & Peltonen, L. (2000). The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation. The American Journal of Human Genetics. https://doi.org/10.1086/303077
Source records
- crossref · retrieved 2026-11-07T03:52:28.607Z