TY  - GEN
AU  - Møller,Lisbeth Birk
AU  - Rea,Gillian
AU  - Yasmeen,Saiqa
AU  - Skjørringe,Tina
AU  - Thorborg,Sidsel Salling
AU  - Morrison,Patrick J
AU  - Donnelly,Deirdre E
TI  - A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
SN  - 1096-7206
PY  - 2014///0616
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Cation Transport Proteins
KW  - Copper-Transporting ATPases
KW  - Exons
KW  - Genetic Association Studies
KW  - Humans
KW  - Male
KW  - Menkes Kinky Hair Syndrome
KW  - Mutation
KW  - RNA Splicing
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2013.09.012
ER  -