Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. - Wikidata - awgldk - TriplyDB

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

http://www.wikidata.org/entity/Q35186364

about

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data.Impact of the next-generation sequencing data depth on various biological result inferences.A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin Hypothesis-generating research and predictive medicine.Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.A New Approach for Fast Metabolic Diagnostics in CMAMMA.Engagement and communication among participants in the ClinSeq Genomic Sequencing Study.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Lipoic acid biosynthesis defects.The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency."Classical organic acidurias": diagnosis and pathogenesis.Methylmalonic and propionic acidemias: clinical management update.A genetic counselor's guide to using next-generation sequencing in clinical practice.Molecular characterization, alternative splicing and expression analysis of ACSF2 and its correlation with egg-laying performance in geese.Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.A plant malonyl-CoA synthetase enhances lipid content and polyketide yield in yeast cells.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

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P2860

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

http://www.wikidata.org/entity/Q35186364

description

2011 nî lūn-bûn

@nan

2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@ast

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@en

type

label

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@ast

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@en

prefLabel

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@ast

Exome sequencing identifies AC ...... ic and methylmalonic aciduria.

@en

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Nature Genetics

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Exome sequencing identifies AC ...... nic and methylmalonic aciduria

@en

P2093

Bruce A Barshop

http://www.w3.org/2001/XMLSchema#string

Caitlin Krause

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Charles P Venditti

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Dimitar K Gavrilov

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Heidi M Dorward

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Jennifer J Johnston

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Jennifer L Sloan

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Julie C Sapp

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Justin R Sysol

http://www.w3.org/2001/XMLSchema#string

Kevin O'Brien

http://www.w3.org/2001/XMLSchema#string

P2860

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

A gene cluster encoding malonyl-CoA decarboxylase (MatA), malonyl-CoA synthetase (MatB) and a putative dicarboxylate carrier protein (MatC) in Rhizobium trifolii--cloning, sequencing, and expression of the enzymes in Escherichia coli.

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.

Mitochondrial fatty acid synthesis--an adopted set of enzymes making a pathway of major importance for the cellular metabolism.

Identification of active-site residues in Bradyrhizobium japonicum malonyl-coenzyme A synthetase.

Fatty acid transport in Saccharomyces cerevisiae. Directed mutagenesis of FAT1 distinguishes the biochemical activities associated with Fat1p.

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

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883-886

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scholarly article

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10.1038/NG.908

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9

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43

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Nuria Carrillo-Carrasco

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2011-08-14T00:00:00Z

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51571608

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3163731

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