- Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
-
Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS
- KMID: 1094269
- J Korean Med Sci.
- 2011 Jul;26(7):951-953.
- doi: 10.3346/jkms.2011.26.7.951
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and... -
- CITED
-
- Close
- SHARE
-
- Close
