| Autor: |
Gh, Thomas, Cs, Miller, Ke, Toomey, Lw, Reynolds, Marc Reitman, Varki A, Vannier A, Kn, Rosebaum, Wb, Bias, Bh, Schofield |
| Předmět: |
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| Zdroj: |
Europe PubMed Central |
| Popis: |
Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis II (I-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was provided by the establishment of pure, stable clones of both wild type and I-cell fibroblasts from each of two biopsies obtained several months apart. Additionally, it was shown that the I-cell fibroblasts lacked UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminylphosphotransferase while the morphologically normal cells contained levels of this enzyme just below or at the lower end of the normal range. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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