Concepedia

Menkes’ syndrome

Alice T. Gasch, Rafael C. Caruso, Stephen G. Kaler, Muriel I. Kaiser‐Kupfer

Ophthalmology · 2002 · 40 citations · 24 references

DOI

References

24

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

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A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION

John H. Menkes, Milton Alter, Gerd Klaus Steigleder et al. · PEDIATRICS · 1962 · 859 citations

, , +17

The rate of spontaneous mutation of a human gene

J. B. S. Haldane · Journal of Genetics · 1935 · 524 citations

, , +9

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Stephen G. Kaler, Linda K. Gallo, Virginia K. Proud et al. · Nature Genetics · 1994 · 265 citations

, , +7

Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport

David M. Danks, Elizabeth J. Cartwright, B. Stevens et al. · Science · 1973 · 218 citations

, , +10