Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

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

1994 • 259 citations

Diverse mutations in patients with Menkes disease often lead to exon skipping.

1994 • 123 citations

Molecular Structure of the Menkes Disease Gene (ATP7A)

1995 • 95 citations

Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

1991 • 51 citations