A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease-Reference-Cited by-同舟云学术

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

Published:2001-08 Issue:2 Volume:69 Page:420-427
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

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

Cited by 49 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The physiological and pathophysiological roles of copper in the nervous system;European Journal of Neuroscience;2024-05-15

2. Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype;European Journal of Medical Genetics;2024-02

3. Supply chain logistics – the role of the Golgi complex in extracellular matrix production and maintenance;Journal of Cell Science;2022-01-01

4. The molecular and cellular basis of copper dysregulation and its relationship with human pathologies;The FASEB Journal;2021-08-14

5. Copper Toxicity Associated With an ATP7A-Related Complex Phenotype;Pediatric Neurology;2021-06