General implications for CpG hot spot mutations: Methylation patterns of the human iduronate‐2‐sulfatase gene locus
S Tomatsu, KO Orii, Y Bi, MA Gutierrez… - Human …, 2004 - Wiley Online Library
The methylation pattern at CpG sites of a housekeeping gene correlates with the likelihood
of mutation. Mucopolysaccharidosis (MPS) type II, an X‐linked disorder, results from the …
of mutation. Mucopolysaccharidosis (MPS) type II, an X‐linked disorder, results from the …
Detection of four novel mutations in the iduronate‐2‐sulfatase gene
Hunter disease (mucopolysaccharidosis type II or MPS II) is an X-linked recessive disorder
caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS)(EC 3.1. 6.13.) …
caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS)(EC 3.1. 6.13.) …
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations
S Tomatsu, K Sukegawa, GG Trandafirescu… - European journal of …, 2006 - nature.com
Hunter syndrome, an X-linked disorder, results from deficiency of iduronate-2-sulfatase
(IDS). Around 40% of independent point mutations at IDS were found at CpG sites as …
(IDS). Around 40% of independent point mutations at IDS were found at CpG sites as …
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with …
AC Brusius-Facchin, L Abrahão, IVD Schwartz… - Gene, 2013 - Elsevier
Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal
disorder caused by the deficit of the enzyme iduronate-2-sulfatase (IDS), involved in the …
disorder caused by the deficit of the enzyme iduronate-2-sulfatase (IDS), involved in the …
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with …
S Bunge, M Rathmann, C Steglich… - European Journal of …, 1998 - nature.com
About 20% of patients with mucopolysaccharidosis type II (MPS II) have gross structural
rearrangements involving the iduronate-sulfatase (IDS) gene in Xq27. 3–q28. A nearby IDS …
rearrangements involving the iduronate-sulfatase (IDS) gene in Xq27. 3–q28. A nearby IDS …
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations
S Alves, M Mangas, MJ Prata, G Ribeiro… - Journal of Inherited …, 2006 - Wiley Online Library
Summary Mucopolysaccharidosis type II (MPS II) is an X‐linked recessive lysosomal storage
disease caused by a defect in the iduronate‐2‐sulfatase gene (IDS). Alternative splicing of …
disease caused by a defect in the iduronate‐2‐sulfatase gene (IDS). Alternative splicing of …
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients
AC Brusius-Facchin, IVD Schwartz, C Zimmer… - Molecular genetics and …, 2014 - Elsevier
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II
(MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease …
(MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease …
[引用][C] Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2 …
CB Whitley, RA Anderson, EL Aronovich… - Human …, 1993 - Wiley Online Library
Hunter syndrome (mucopolysaccharidosis type 11) is an X-linked recessive disorder
resulting from deficient iduronate-2-sulfatase (IDS) enzyme activity and systemic …
resulting from deficient iduronate-2-sulfatase (IDS) enzyme activity and systemic …
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutations in the iduronate‐2‐sulfatase (IDS) gene
M Filocamo, G Bonuccelli, F Corsolini… - Human …, 2001 - Wiley Online Library
Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X‐linked lysosomal
storage disorder, results from deleterious mutations in the iduronate‐2‐sulfatase (IDS) gene …
storage disorder, results from deleterious mutations in the iduronate‐2‐sulfatase (IDS) gene …
Mutations of the iduronate‐2‐sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)
W Schröder, K Wulff, M Wehnert, G Seidlitz… - Human …, 1994 - Wiley Online Library
Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X‐linked
iduronate‐2‐sulfatase (IDS) deficiency showing variable clinical manifestation were …
iduronate‐2‐sulfatase (IDS) deficiency showing variable clinical manifestation were …