Associated Papers
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1
Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.
Khan FI et al.
Gene, 2016
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
Benoit-Biancamano MO et al.
Pharmacogenetics and Genomics, 2009
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R et al.
American Journal of Human Genetics, 1996
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Yamada S et al.
Human Molecular Genetics, 1995
[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
Bruskina VIa et al.
Tsitologiia I Genetika, 0
Select a paper to view details