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Article

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

Orphanet journal of rare diseases - 24 Jul 2018

Brasil Sandra, Leal Fátima, Vega Ana, Navarrete Rosa, Ecay María Jesús, Desviat Lourdes R, Riera Casandra, Padilla Natàlia, de la Cruz Xavier, Couce Mari Luz, Martin-Hernández Elena, Morais Ana, Pedrón Consuelo, Peña-Quintana Luis, Rigoldi Miriam, Specola Norma, de Almeida Isabel Tavares, Vives Inmaculada, Yahyaoui Raquel, Rodríguez-Pombo Pilar, Ugarte Magdalena, Pérez-Cerda Celia, Merinero Begoña, Pérez Belén

Abstract excerpt

BACKGROUND: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious....

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Source

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Identifiers

PMID: 30041674
DOI: 10.1186/s13023-018-0862-y
PMCID: PMC6057060

Genes

SUCLA2
ACSF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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