Abberantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene opon donor splice-site point mutation produce hereditary HL deficiency
Publication year
1996Source
Journal of Lipid Research, 37, (1996), pp. 2420-2432ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Journal title
Journal of Lipid Research
Volume
vol. 37
Page start
p. 2420
Page end
p. 2432
Subject
Clinical and biochemical aspects of the Smith-Opitz syndrome.; Klinische en biochemische aspecten van het Smith-Lemli-Opitz syndroom.This item appears in the following Collection(s)
- Academic publications [243984]
- Electronic publications [130695]
- Faculty of Medical Sciences [92811]
- Open Access publications [104973]
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