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

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 seq...

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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057060/
https://ncbi.nlm.nih.gov/pubmed/30041674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0862-y
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