Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit - Concepedia

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Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

DOI Full Paper Access

264

Citations

26

References

1998

Year

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets, Z Gelman-Kohan, Orly Elpeleg, Jan Loeffen, Frans J.M. Trijbels, Edwin C.M. Mariman, Diederik de Bruijn

The American Journal of Human Genetics

Human ComplexGenetic DisorderGeneticsPathogenesisNuclear GeneMolecular BiologyNew Pathogenic MutationComplex DiseaseMolecular GeneticsDisease Gene IdentificationMedicineInborn Error Of Immunity

References

	Year	Citations

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