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

✍ Scribed by Nina Aula; Pirjo Salomäki; Ritva Timonen; Frans Verheijen; Grazia Mancini; Jan-Eric Månsson; Pertti Aula; Leena Peltonen

• Book ID: 117853425
• Publisher: American Society of Human Genetics
• Year: 2000
• Tongue: English
• Weight: 213 KB
• Volume: 67
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/303077