Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure-Reference-Cited by-同舟云学术

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Published:2019-06 Issue:6 Volume:1865 Page:1182-1191
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Pérez-Torras Sandra,Mata-Ventosa Aida,Drögemöller Britt,Tarailo-Graovac Maja,Meijer Judith,Meinsma Rutger,van Cruchten Arno G.,Kulik Wim,Viel-Oliva Albert,Bidon-Chanal Axel,Ross Colin J.,Wassermann Wyeth W.,van Karnebeek Clara D.M.,Pastor-Anglada Marçal,van Kuilenburg André B.P.

Funder

Ministerio de Economía y Competitividad

Fundación Ramón Areces

Universitat de Barcelona

Ministerio de Educación, Cultura y Deporte

Canadian Institutes of Health Research

Genome British Columbia

Genome Canada

Michael Smith Foundation for Health Research

CIHR Postdoctoral Fellowship

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference34 articles.

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