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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1996
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1914948/ https://ncbi.nlm.nih.gov/pubmed/8554047 |
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