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Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays

✍ Scribed by Rong Mao; John F. O'Brien; Subramanya Rao; Eric Schmitt; Benjamin Roa; Gerald L. Feldman; W.Christine Spence; Karen Snow


Book ID
115639816
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
163 KB
Volume
72
Category
Article
ISSN
1096-7192

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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.