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

Abstract 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...

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Principais autores: Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-07-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Cobalamin disorders
Methylmalonic aciduria
Homocystinuria
Massive parallel sequencing
Online adgang:http://link.springer.com/article/10.1186/s13023-018-0862-y
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