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Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
The primary molecular defect underlying Niemann-Pick C disease (NPC) is still unknown. A wide spectrum of clinical and biochemical phenotypes has previously been documented. Indication of genetic heterogeneity has recently been provided for one patient. In the present study, somatic cell hybridizati...
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| Main Authors: | , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1996
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1914948/ https://ncbi.nlm.nih.gov/pubmed/8554047 |
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