3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

Item
http://www.wikidata.org/entity/Q38359853
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi populationHMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.The fasted/fed mouse metabolic acetylome: N6-acetylation differences suggest acetylation coordinates organ-specific fuel switchingApplication of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Definition of regulatory sequence elements in the promoter region and the first intron of the myotonic dystrophy protein kinase gene.A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Hormone-sensitive lipase (Lipe): sequence analysis of the 129Sv mouse Lipe gene.Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients
P2860

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

Item
http://www.wikidata.org/entity/Q38359853
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
3-Hydroxy-3-methylglutaryl CoA ...... related HL-deficient patients.
@en
type
label
3-Hydroxy-3-methylglutaryl CoA ...... related HL-deficient patients.
@en
prefLabel
3-Hydroxy-3-methylglutaryl CoA ...... related HL-deficient patients.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
3-Hydroxy-3-methylglutaryl CoA ...... related HL-deficient patients.
@en
P2093
P304
P31
P356
P433
P478
P577
P698