A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease.
- Author:
Li-ping ZHANG
1
;
Jun-lan LÜ
;
Xiao-hui WANG
;
Li-ping ZOU
Author Information
1. Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
- Publication Type:Case Reports
- MeSH:
Adenosine Triphosphatases;
genetics;
Cation Transport Proteins;
genetics;
Copper-transporting ATPases;
Gene Deletion;
Humans;
Infant;
Male;
Menkes Kinky Hair Syndrome;
genetics;
Polymorphism, Single Nucleotide
- From:
Chinese Medical Journal
2008;121(2):175-177
- CountryChina
- Language:English
