Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

作者:Aminoff A; Gunnar E; Barbaro M; Mannila M N; Duponchel C; Tosi M; Robinson K L; Hernell O; Ehrenborg E*
来源:Clinical Genetics, 2012, 82(2): 197-200.
DOI:10.1111/j.1399-0004.2011.01828.x