OMIM: 256550Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | NEU1 |
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| Dna Change: | c.808C>T |
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| Protein Change: | p.Leu270Phe |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 5 |
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| Transcript: | NM_000434.3 |
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References
Rodríguez Criado G, Pshezhetsky AV, Rodríguez Becerra A, Gómez de Terreros I, Clinical variability of type II sialidosis by C808T mutation.Am. J. Med. Genet. A. 2003; 116(4):368-71