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South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|July 22, 1978
Krabbe's disease in an infant and her fetal sibling. A case reportE M Petersen, M M Nelson, A J Thomson, et al.
European Journal of Biochemistry|September 1, 1992
A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activityT Bruin, J J Kastelein, D E Van Diermen, et al.
Genomics|September 1, 1987
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease geneM E MacDonald, M A Anderson, T C Gilliam, et al.
Clinical Pharmacology and Therapeutics|August 22, 2014
Genetic markers of cisplatin-induced hearing loss in childrenB C Carleton, C J Ross, K Pussegoda, et al.
Genomics|February 13, 2001
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2S Hadano, Y Yanagisawa, J Skaug, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|November 4, 2000
HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtinV S Chopra, M Metzler, D M Rasper, et al.
The Journal of Biological Chemistry|August 9, 1996
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzymeM A Kalchman, R K Graham, G Xia, et al.
Clinical Genetics|April 13, 2011
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humansL R Brunham, I Tietjen, A E Bochem, et al.
Science (New York, N.Y.)|June 16, 2001
Loss of huntingtin-mediated BDNF gene transcription in Huntington's diseaseC Zuccato, A Ciammola, D Rigamonti, et al.
The Journal of Biological Chemistry|April 20, 2000
Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cellsC L Wellington, R Singaraja, L Ellerby, et al.
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