GNE myopathy in a Chinese male with a novel homozygous mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2016.12.041
Abstract: GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report… read more here.
Keywords: novel homozygous; mutation gne; gne myopathy; gne gene ... See more keywords
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Sign Up to like & getrecommendations! Published in 2022 at "Thrombosis and haemostasis"
DOI: 10.1055/s-0041-1742207
Abstract: The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and… read more here.
Keywords: defect; gne; thrombocytopenia; platelet ... See more keywords