TY  - JOUR
AU  - Sánchez-Román Rojas, Inés
AU  - Lautrup, Sofie
AU  - Aamann, Maria Diget
AU  - Neilan, Edward 
AU  - Østergaard, John 
AU  - Stevnsner, Tinna
PY  - 2018
DO  - 10.1016/j.mad.2018.06.001
SN  - 0047-6374
UR  - https://hdl.handle.net/20.500.14352/96759
T2  - Mechanisms of Ageing and Development
AB  - Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging. Most of the cases are due to mutations in the ERCC6 gene, which encodes the protein CSB. CSB is involved in several...
LA  - eng
M2  - 7
PB  - Elsevier
KW  - Cockayne Syndrome
KW  - CSB
KW  - ERCC6
KW  - Splice site mutation
KW  - Metabolomics
KW  - Premature aging
TI  - Two Cockayne Syndrome patients with a novel splice site mutation – clinical and metabolic analyses
TY  - journal article
VL  - 175
ER  -