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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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Bibliographic Details
Main Authors: Vanier, M. T., Duthel, S., Rodriguez-Lafrasse, C., Pentchev, P., Carstea, E. D.
Format: Artigo
Language:Inglês
Published: 1996
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914948/
https://ncbi.nlm.nih.gov/pubmed/8554047
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