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Hereditary spastic paraplegia is frequently caused by mutations in a novel gene, SPG31
Stephan Züchner, Center for Human Genetics and Department of Psychiatry and Behavioral Science, Duke University Medical Center, Durham, NC, USA, United States
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Autosomal dominant psoriasiform seborrhea-like dermatitis caused by a mutation in PSORAEL, a novel putative transcription factor
Dr Ohad S Birk, Ben-Gurion University and Soroka Medical Center, Israel
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Autosomal recessive infantile bilateral striatal necrosis is caused by a mutation in the nup62 gene
Lina Basel-Vanagaite, Schneider Children’s Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva and Sackler Faculty of Me, Israel
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Mutations in NDUFAF1, encoding a complex I assembly factor, are a novel cause of mitochondrial disease
Miss Canny Sugiana, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia
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Deficiencies in different subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorder of Glycosylation
Gert Matthijs, Center for Human Genetics, University of Leuven, Belgium
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Association of Cathepsin B Gene Polymorphisms with Tropical Calcific Pancreatitis: A New Candidate Gene
Ms Swapna Mahurkar, Centre for Cellular and Molecular Biology, Hyderabad, India
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Protein Translation and Human Genetic Disease: Studying the Role of tRNA-Charging Enzymes in Neuronal Health
Anthony Antonellis, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Maryland, United States
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Translation reinitiation at the ATP7A locus associated with favorable early treatment outcomes in classical Menkes disease
Stephen G Kaler, NICHD, NIH, United States
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