Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

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scientific article published on 24 July 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Improving the diagnosis of cob ...... l assessment of novel variants

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Ana Morais

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Ana Vega

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Begoña Merinero

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Belén Pérez

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Casandra Riera

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Celia Pérez-Cerda

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Consuelo Pedrón

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Elena Martin-Hernández

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Fátima Leal

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Inmaculada Vives

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P2860

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Exome sequencing identifies the cause of a mendelian disorder

Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

Update on cobalamin, folate, and homocysteine

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Interactions of GTP with the ATP-grasp domain of GTP-specific succinyl-CoA synthetase

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)

Exome sequencing as a tool for Mendelian disease gene discovery

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s13023-018-0862-y

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125

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scholarly article

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10.1186/S13023-018-0862-Y

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English

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Raquel Yahyaoui

María L Couce

Natàlia Padilla Sirera

Luis Peña-Quintana

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2018-07-24T00:00:00Z

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1105807046

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30041674

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6057060

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