MUCOPOLYSACCHARIDOSES: FROM GENE DEFECT TO PROTEIN EXPRESSION
- 2 Anni 1999/2001
- 72.304€ Totale Fondi
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Pubblicazioni Scientifiche
- BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Heparan N-sulfatase:: In vitro mutagenesis of potential N-glycosylation sites
- BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Maroteaux-Lamy syndrome: five novel mutations and their structural localization
- BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Heparan N-sulfatase gene:: two novel mutations and transient expression of 15 defects
- BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Expression of five iduronate-2-sulfatase site-directed mutations
- BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
- HUMAN GENE THERAPY
Limited transgene immune response and long-term expression of human α-L-iduronidase in young adult mice with mucopolysaccharidosis type I by liver-directed gene therapy
- HUMAN GENETICS
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
- INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Bone marrow transplantation in a Hunter patient with P266H mutation
- PRENATAL DIAGNOSIS
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele
