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Exome sequencing identifies ACSF3. - PubMed.

These data establish a candidate gene for CMAMMA using exome sequencing in a single affected with validation using four approaches. First, seven additional probands harbored two mutations in ACSF3. Second, an affected dog had a single, unique sequence variant in the canine ACSF3 orthologue in a conserved residue that was absent in 40 diverse controls.

Exome sequencing identifies ACSF3 as a cause.

With follow-up sequencing of an additional eight cases, they confirm ACSF3 as a cause of CMAMMA. They further report a canine model for CMAMMA that has a mutation in a putative ACSF3 ortholog.

Exome sequencing identifies ACSF3 as a cause of.

14.08.2011 · These data establish a candidate gene for CMAMMA using exome sequencing in a single trio with validation using four approaches. First, seven additional probands harbored two mutations in ACSF3. Exom-Sequenzierung bei Kindern A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med 2016; 18: 1090–6 CrossRef MEDLINE 20.PDF Exome sequencing identifies ACSF3 as a. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaExom-Sequenzierung Dipl.-Bioinf. Sebastian Eck Im Vergleich zu Whole Exome Sequencing (WES), bei der alle proteincodierenden Bereiche der ca. 20.000 bekannten Gene angereichert und sequenziert werden, wird bei Clinical Exome Sequencing (CES) ein Subset des Exoms angereichert.Combined malonic and methylmalonic aciduria. 01.09.2011 · Exome sequencing of patient 2, followed by the selection of novel non-synonymous variants (see Methods) that were either homozygous or potentially compound heterozygous (two mutations in the same gene) resulted in the identification of only two potential candidate genes: TAS2R43 (taste receptor, type 2, member 43) and ACSF3, a novel member of the family of acyl-CoA synthetases (ACS).Whole Exome Sequencing Identifies a Troponin T. Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene using segregation analysis in a large DCM family.

PDF Exome sequencing identifies ACSF3 as the.

We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing.

The Mammalian Malonyl-CoA Synthetase ACSF3.

As described in Method Details, ACSF3 KO cells were generated by transfecting hCas9 and the hACSF3 gRNA or hCas9 alone and deriving individual clones that were screened by immunoblotting and sequencing the ACSF3 target site.

ACSF3 gene - Genetics Home Reference - NIH

Most ACSF3 gene mutations involved in CMAMMA change single protein building blocks (amino acids) in the ACSF3 enzyme. The altered enzyme likely has little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of malonic and methylmalonic acids may be responsible for the signs and.

Seltene Erbkrankheiten: Exom-Sequenzierung mit hoher.

Los Angeles/Houston – Mehr als ein Jahrzehnt nach der Entschlüsselung des menschlichen Erbguts erhält die Genom-Sequenzierung langsam Einzug in die klinische.

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