Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group - Concepedia

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

DOI Full Paper Access

166

Citations

34

References

2001

Year

Gilles Millat, Karim Chikh, Saule Naureckiene, David E. Sleat, Anthony H. Fensom, Katsumi Higaki, M. Elleder, Peter Lobel, Marie T. Vanier

The American Journal of Human Genetics

Mendelian DisorderNpc2 GroupGenetic DisorderMedicineGeneticsPathogenesisGenetic EpidemiologyPathologyHe1 MutationsMolecular GeneticsGenotype/phenotype CorrelationsDisease Gene IdentificationMolecular DiagnosticsVariant InterpretationClinical Genetics

References

	Year	Citations

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