Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...

Background and objective Much progress has been made in determining loci where gene expression at the steady-state mRNA level is controlled by genetic variants in cis. However, mRNA is only a proxy ...

Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...

1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...

Department of Genome Sciences, University of Washington School of Medicine, USA ...

1 Department of Human Genetics, Leiden University Medical Center, Netherlands 2 Department of Molecular Cell Biology, Leiden University Medical Center, Netherlands 3 Centre for Electron Microscopy, ...

1 Department of Neurology, The University of Newcastle upon Tyne, UK 2 Institute of Human Genetics, The University of Newcastle upon Tyne, UK 3 Department of Radiology, Newcastle upon Tyne Hospitals ...

1 Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK 2 Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, UK 3 ...

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, ...

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

A homozygote for the gene controlling Hb D Punjab is described. The diagnosis is supported by the peptide analysis of the haemoglobin and the examination of both parents. There was no anaemia or ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...