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

Crossref DOI link: https://doi.org/10.1186/s13023-018-0862-y

Published Online: 2018-07-24

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

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
Funding

Funding for this research was provided by:

Instituto de Salud Carlos III (PI13/01239-PI16/00573)

Fundación Isabel Gemio-Fundación La Caixa (LCF/PR/PR16/11110018)
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Article History

Received: 18 January 2018

Accepted: 29 June 2018

First Online: 24 July 2018

Competing interest

: All authors declare that they have no competing interest.

: The study was approved by the ethics committee of the Universidad Autónoma de Madrid ( CEI48–919 ) . The participants or their legal guardians gave their signed, informed consent to be included.

: Not applicable

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