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The spectrum ofGNEmutations: allelic heterogeneity for a common phenotype

โœ Scribed by Marina Grandis; Rossella Gulli; Denise Cassandrini; Elisabetta Gazzerro; Luana Benedetti; Eleonora Narciso; Lucilla Nobbio; Claudio Bruno; Carlo Minetti; Emilia Bellone; Lizia Reni; Giovanni Luigi Mancardi; Paola Mandich; Angelo Schenone


Book ID
106268872
Publisher
Springer Milan
Year
2010
Tongue
English
Weight
244 KB
Volume
31
Category
Article
ISSN
1590-1874

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Molecular heterogeneity in mucopolysacch
โœ Naoto Yamada; Seiji Fukuda; Shunji Tomatsu; Vivienne Muller; John J. Hopwood; Jo ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 152 KB

## Communicated by William S. Sly Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Previous studies of patients from a British-Irish population showed that the I113F mutation is