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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/s40278-016-13275-5

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1435-232X

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Mucopolysaccharidosis IVA A novel splice acceptor

Authors: Seiji Fukuda Naoto Yamada Shunji Tomatsu Kazuko Sukegawa Adriana Maria Montaño John J Hopwood Vivenne Muller Tadao Orii Naomi Kondo
Publish Date: 1997/06
Volume: 42, Issue: 2, Pages: 317-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptWe report here a novel splice site mutation in intron 4 of the gene for Nacetylgalactosamine6sulfate sulfatase GALNS in an Afghanistan girl with severe mucopolysaccharidosis IVA classical Morquio disease Direct sequencing revealed a homozygous G to A transition in the conserved splice acceptor site in intron 4 ca g G→ca a G designated IVS 4−1 G→A which eliminates 144 nucleotides of exon 5 in her GALNS transcript and introduces an immediate premature termination codon at Trp 141 of exon 4 The IVS 4−1 G→A has not been seen in other populations and this is the first report of the molecular basis of classical Morquio disease in an Afghanistan patient

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