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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: BMC 2018-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cobalamin disorders
Methylmalonic aciduria
Homocystinuria
Massive parallel sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-018-0862-y

Internet

http://link.springer.com/article/10.1186/s13023-018-0862-y

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