Concepedia

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina Kennerson, Garth A. Nicholson, Stephen G. Kaler, Bartosz Kowalski, Julian F. B. Mercer, Jingrong Tang, Roxana M. Llanos, Shannon Chu, Reinaldo Issao Takata, Carlos E. Speck‐Martins,

The American Journal of Human Genetics · 2010 · 189 citations · 38 references

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38

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Jamel Chelly, Zeynep Tümer, T. Tønnesen et al. · Nature Genetics · 1993 · 728 citations

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Isolation of a partial candidate gene for Menkes disease by positional cloning

Julian F. B. Mercer, Janie Livingston, Bryan Hall et al. · Nature Genetics · 1993 · 697 citations · Full text

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Ligand‐regulated transport of the Menkes copper P‐type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

Michael J. Petris, J. F. B. Mercer, Janetta G. Culvenor et al. · The EMBO Journal · 1996 · 645 citations · Full text

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 584 citations · Full text

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