Myelopathy in mucopolysaccharidosis type II (Hunter syndrome)
โ Scribed by Clarence E. Ballenger; Dr. Thomas R. Swift; Robert T. Leshner; Taher A. El Gammal; Thomas F. McDonald
- Publisher
- John Wiley and Sons
- Year
- 1980
- Tongue
- English
- Weight
- 668 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0364-5134
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๐ SIMILAR VOLUMES
Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat
More than 100 mutations of the HPRT gene have been described related to Lesch-Nyhan syndrome in complete lack of enzyme activity, or KelleySeegmiller syndrome in partial enzyme deficiency. We examined (modified according to genomic DNA from an 11-year-old boy, S.Z., with -1% HPRT activity, who had