TY  - GEN
AU  - Skjørringe,Tina
AU  - Tümer,Zeynep
AU  - Møller,Lisbeth Birk
TI  - Splice site mutations in the ATP7A gene
SN  - 1932-6203
PY  - 2011///0816
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Cation Transport Proteins
KW  - Computational Biology
KW  - Copper-Transporting ATPases
KW  - Fibroblasts
KW  - enzymology
KW  - Gene Expression Regulation, Enzymologic
KW  - Humans
KW  - Menkes Kinky Hair Syndrome
KW  - Mutation
KW  - Phenotype
KW  - RNA Splice Sites
KW  - RNA, Messenger
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1371/journal.pone.0018599
ER  -