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Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar c...

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Bibliografiske detaljer
Main Authors: Das, S, Levinson, B, Vulpe, C, Whitney, S, Gitschier, J, Packman, S
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801180/
https://ncbi.nlm.nih.gov/pubmed/7887410
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