Article
Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
Annals of neurology - 1 Dec 1995
Kaler S G, Buist N R, Holmes C S, Goldstein D S, Miller R C, Gahl W A
Abstract excerpt
To correlate genotype with response to early copper histidine therapy in Menkes disease, an X-linked disorder of copper transport, we performed mutational analysis in 2 related males who began treatment at the age of 10 days and prenatally at 32 weeks' gestation, respectively. A G to T transversion at the -1 exonic position of a splice donor site was identified, predicting a glutamine to histidine substitution at...
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