Takahito Wada Marie Reine Haddad Ling Yi Tomomi Murakami Akiko Sasaki Hiroko Shimbo Hiroko Kodama Hitoshi Osaka Stephen G Kaler
10.1016/j.pediatrneurol.2014.01.005
Pediatr Neurol
2014 Apr;50(4):417-20.
atp7a menkes disease premature termination codon translation reinitiation
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24630286/
Adenosine Triphosphatases / genetics Cation Transport Proteins / genetics Menkes Kinky Hair Syndrome / genetics
Adenosine Triphosphatases / genetics Cation Transport Proteins / genetics Menkes Kinky Hair Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Age of Onset Base Sequence Copper-Transporting ATPases DNA Mutational Analysis Frameshift Mutation Humans Infant Male Phenotype RNA, Messenger / genetics Sequence Deletion Cation Transport Proteins RNA, Messenger Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases
PMC3959660
24630286
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease
2014