A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease.
Zhang
Li-ping
LP
Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
Lü
Jun-lan
JL
Wang
Xiao-hui
XH
Zou
Li-ping
LP
D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases