A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Author:

Dagenais Susan L.,Adam Ayla N.,Innis Jeffrey W.,Glover Thomas W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease;Ambrosini;Hum Mol Genet,1999

2. X-linked cutis laxa due to deficiency of lysyl oxidase;Byers;N Engl J Med,1980

3. Molecular mechanism of copper homeostasis;Camakaris;Biochem Biophys Res Commun,1999

4. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nat Genet,1993

5. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse;Das;Am J Hum Genet,1995

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