Gene: sialidase 1 (lysosomal sialidase); NEU1


Gene Symbol: NEU1
OMIM: 608272
Chromosome location: 6p21.33

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Sialidosis, type II || c.808C>T

Phenotype:    Sialidosis, type II
Dna Change:    c.808C>T
Protein Change:    p.Leu270Phe
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 5
Transcript:    NM_000434.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNASeville3 patients/2 unrelated familiesNARodríguez Criado G et al., 2003Rodríguez 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

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