Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B.
Lerner-Ellis JP, et al. Among authors: loewy ad.
Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.
Hum Mutat. 2009.
PMID: 19370762