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Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model

Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. Affected mutants die in utero at embryonic day 17, and show bending and thickening of the ribs and distortion of the pectoral...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab
Hauptverfasser: Haddad, Marie Reine, Patel, Keyur D., Sullivan, Patricia H., Goldstein, David S., Murphy, Kevin M., Centeno, Jose A., Kaler, Stephen G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259894/
https://ncbi.nlm.nih.gov/pubmed/25456742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.10.001
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