A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.

Møller, Lisbeth Birk

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. [electronic resource] - Molecular genetics and metabolism Dec 2013 - 490-2 p. digital

Publication Type: Journal Article

1096-7206

10.1016/j.ymgme.2013.09.012 doi


Adenosine Triphosphatases--genetics
Cation Transport Proteins--genetics
Copper-Transporting ATPases
Exons
Genetic Association Studies
Humans
Male
Menkes Kinky Hair Syndrome--genetics
Mutation
RNA Splicing--genetics