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The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

✍ Scribed by Palmieri, Giuseppe; Capra, Valeria; Romano, Giovanna; D'Urso, Michele; Johnson, Sandra; Schlessinger, David; Morris, Phillip; Hopwood, John; Di Natale, Paola; Gatti, Rosanna; Ballabio, Andrea


Book ID
120452712
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
803 KB
Volume
12
Category
Article
ISSN
0888-7543

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## Communicated by Mark H. Paalman Mutations at the Norrie disease gene locus, NDP, manifest in a broad range of defects. These range from a relatively mild, late-onset, exudative vitreoretinopathy to congenital blindness and sensorineural deafness combined, in some cases, with mental retardation.