A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.

Lin, Yi-Jie

A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. [electronic resource] - Pediatrics and neonatology 02 2017 - 89-92 p. digital

Publication Type: Case Reports; Journal Article

2212-1692

10.1016/j.pedneo.2014.05.008 doi


Adenosine Triphosphatases--genetics
Cation Transport Proteins--genetics
Copper-Transporting ATPases
Histidine--analogs & derivatives
Humans
Infant
Male
Menkes Kinky Hair Syndrome--diagnosis
Organometallic Compounds--therapeutic use
Point Mutation--genetics