Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode the γ subunit of the N-acetylglucosamine-1-phosphotr...

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Veröffentlicht in:	Gene 2018-02, Vol.642, p.398-407
Hauptverfasser:	Tüysüz, Beyhan, Kasapçopur, Özgür, Alkaya, Dilek Uludağ, Şahin, Sezgin, Sözeri, Betül, Yeşil, Gözde
Format:	Artikel
Sprache:	eng
Schlagworte:	Genotype GNPTG Mucolipidosis III gamma Phenotype
Online-Zugang:	Volltext
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