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The Netherlands Journal of Medicine|November 1, 1996
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiencyS M Bijvoet, H Wiebusch, Y Ma, et al.
The Journal of Clinical Investigation|June 1, 1991
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric originH E Henderson, Y Ma, M F Hassan, et al.
Clinical Pharmacology and Therapeutics|April 17, 2013
Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in childrenK Pussegoda, C J Ross, H Visscher, et al.
Human Gene Therapy|January 26, 2000
Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transferG Liu, K J Ashbourne Excoffon, J E Wilson, et al.
Genomics|January 16, 1999
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34S Hadano, K Nichol, R R Brinkman, et al.
Journal of Lipid Research|June 1, 1994
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoformY Ma, T C Ooi, M S Liu, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 15, 2001
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesisS Holbert, I Denghien, T Kiechle, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|December 9, 1997
Diet-induced atherosclerosis in the domestic catD G Ginzinger, J E Wilson, D Redenbach, et al.
The Journal of Biological Chemistry|January 25, 1992
Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysisY H Ma, T Bruin, S Tuzgol, et al.
Clinical Pharmacology and Therapeutics|March 9, 2012
Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markersJ Sistonen, P Madadi, C J Ross, et al.
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