Maintenance: Friday 24 November 2017, 18:00 - Saturday 25 November 18:00
Database maintenance work on the ZORA servers is provided. The service is interrupted for 24 hours. Thank you for your patience.
Lerner-Ellis, J P; Anastasio, N; Liu, J; Coelho, D; Suormala, T; Stucki, M; Loewy, A D; Gurd, S; Grundberg, E; Morel, C F; Watkins, D; Baumgartner, M R; Pastinen, T; Rosenblatt, D S; Fowler, B (2009). Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human Mutation, 30(7):1072-1081.