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

Author:

Nina Aula,Pirjo Salomäki,Ritva Timonen,Frans Verheijen,Grazia Mancini,Jan-Eric Månsson,Pertti Aula,Leena Peltonen

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

October 2000

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