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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

✍ Scribed by T. Georgiou; A. Drousiotou; Y. Campos; A. Caciotti; L. Sztriha; A. Gururaj; P. Ozand; E. Zammarchi; A. Morrone; A. D'Azzo

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 232 KB
Volume: 24
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9296

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Four novel mutations in patients from th

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GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the

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Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

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## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit

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lines 9-10: "Eight novel mutations were identified, including 4 single base changes…" This should read: "Eight novel mutations were identified, including 5 single base changes…" 2. Page 3, second line from bottom: "…(g.76940del12; IVS15del+20-33) extending from +18 to +32 of the intron (RB72)." Thi

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Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis

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The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1

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Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from M