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1.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25655089
2.
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Mol Genet Metab
; 108(4): 232-40, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23465862
3.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Mol Biol Rep
; 39(4): 4777-85, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-21952825
4.
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Hum Mutat
; 30(3): E520-9, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19177531
5.
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Biophys Chem
; 115(2-3): 241-5, 2005 Apr 01.
Article
in English
| MEDLINE | ID: mdl-15752612
6.
Is mortalin a candidate gene for T1DM ?
Autoimmunity
; 37(6-7): 423-30, 2004.
Article
in English
| MEDLINE | ID: mdl-15621568
7.
Molecular genetics of HMG-CoA lyase deficiency.
Mol Genet Metab
; 92(3): 198-209, 2007 Nov.
Article
in English
| MEDLINE | ID: mdl-17692550
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