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Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

✍ Scribed by McInnes, Beth; Brown, Charlotte A.; Mahuran, Don J.


Book ID
123590736
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
371 KB
Volume
1138
Category
Article
ISSN
0925-4439

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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.