Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

A haplotype is a multisite haploid genotype at two or more polymorphic sites on the same
chromosome in a defined DNA region. An evolutionary tree of the haplotypes can be …

Abstract Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal‐
recessive disorder caused by a deficiency of lysosomal N‐acetylgalactosamine‐6‐sulfate …

Cytosine methylation is a common form of post-replicative DNA modification seen in both
bacteria and eukaryotes. Modified cytosines have long been known to act as hotspots …

This second edition integrates the more technical and mathematical aspects of
bioinformatics with concrete examples of their application to current research problems in …

Abstract Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder
that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the …

OBJECTIVE: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by
deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for …

The present study aimed to characterize mutant alleles in Mucopolysaccharidosis II and
evaluate possible reduction of mRNA amount consequent to nonsense-mediated or nonstop …

Sequence analysis of the X‐linked iduronate‐2‐sulfatase (IDS) gene in two Hunter
syndrome patients revealed a lack of concordance between IDS genomic DNA and cDNA …

Cover illustration: Methylation Profile of Integrated Adenovirus Type 12 DNA In the genome
of the Ad12-transformed hamster cell line TR12, one copy of Ad12 DNA (green line) and a …