Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Abstract excerpt

BACKGROUND: Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms. METHODS: We measured biochemical markers of impaired copper transport in five patients from two unrelated families and used RNase protection,...

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