Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kristen E. Lem"'
Publikováno v:
Genetics in Medicine. 8:711-718
Objective: A range of neurologic morbidity characterizes childhood-onset copper transport defects, including severe Menkes disease and milder occipital horn syndrome. Both phenotypes are caused by mutations in ATP7A, which encodes a copper-transporti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad254623f58df9a18804314920ec921
https://doi.org/10.1097/01.gim.0000245578.94312.1e
https://doi.org/10.1097/01.gim.0000245578.94312.1e
Publikováno v:
Molecular Genetics and Metabolism. 85:291-300
Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A) that normally delivers copper to the central nervous system. The precise reasons for neurodegeneration in MD ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6f11862e728c5db1e41ff19107b3ea
https://doi.org/10.1016/j.ymgme.2005.04.007
https://doi.org/10.1016/j.ymgme.2005.04.007
Autor:
Stephen G. Kaler, Jose A. Centeno, Kristen E. Lem, Simina Lal, Martin J. Lizak, Sarah C. Godwin, Olga Tjurmina, Po-Ching Liu, Lauren R. Brinster
Publikováno v:
Molecular genetics and metabolism. 91(1)
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in a P-type ATPase (ATP7A) that normally delivers copper to the developing central nervous system. Infants with large deletions, or other mutations in AT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784c7540f54c936eccf25557c45bdb54
https://pubmed.ncbi.nlm.nih.gov/17336116
https://pubmed.ncbi.nlm.nih.gov/17336116