11 results on '"Puisac, Beatriz"'
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2. MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
3. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
4. Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity
5. New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
6. 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
7. Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol
8. Molecular genetics of HMG-CoA lyase deficiency
9. C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity
10. 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
11. Structural (βα)8 TIM Barrel Model of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase
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