Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
about
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentRecent advances in treatment of severe primary immunodeficienciesCurrent treatment of atypical hemolytic uremic syndromeReduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfurationTowards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA)Update and new concepts in vitamin responsive disorders of folate transport and metabolism.Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesExome sequencing: dual role as a discovery and diagnostic tool.Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.Inborn errors of metabolism underlying primary immunodeficiencies.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.Targeting nuclear thymidylate biosynthesis.The Rise and Rise of Exome Sequencing.Arsenic trioxide targets MTHFD1 and SUMO-dependent nuclear de novo thymidylate biosynthesis.MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability.
P2860
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P2860
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
description
2011 nî lūn-bûn
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2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
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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
Novel inborn error of folate m ...... THFD1 gene in a single proband
@ast
Novel inborn error of folate m ...... THFD1 gene in a single proband
@en
Novel inborn error of folate m ...... THFD1 gene in a single proband
@nl
type
label
Novel inborn error of folate m ...... THFD1 gene in a single proband
@ast
Novel inborn error of folate m ...... THFD1 gene in a single proband
@en
Novel inborn error of folate m ...... THFD1 gene in a single proband
@nl
prefLabel
Novel inborn error of folate m ...... THFD1 gene in a single proband
@ast
Novel inborn error of folate m ...... THFD1 gene in a single proband
@en
Novel inborn error of folate m ...... THFD1 gene in a single proband
@nl
P2093
P1476
Novel inborn error of folate m ...... THFD1 gene in a single proband
@en
P2093
Bernard S Kaplan
David S Rosenblatt
David Watkins
Jacek Majewski
Jaya Ganesh
Laura Dempsey Nunez
P304
P356
10.1136/JMEDGENET-2011-100286
P407
P577
2011-08-03T00:00:00Z