Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Abdelfattah, F.; Kariminejad, A.; Kahlert, A. K.; Riaño Galán, Isolina

doi:10.1002/humu.24067

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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

dc.contributor.author	Abdelfattah, F.
dc.contributor.author	Kariminejad, A.
dc.contributor.author	Kahlert, A. K.
dc.contributor.author	Riaño Galán, Isolina
dc.date.accessioned	2021-01-27T10:18:26Z
dc.date.available	2021-01-27T10:18:26Z
dc.date.issued	2020
dc.identifier.citation	Human Mutation, 41(9), p. 1615-1628 (2020); doi:10.1002/humu.24067
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10651/57295
dc.description.sponsorship	Financial assistance was received in support of the study by grants from the German Federal Ministry of Education and Research (BMBF) (GeNeRARe, FKZ: 01GM1519D) to M. Z. and from the Institute of Health Carlos III: Convenio ISCIII‐ASEREMAC, and Fundación 1000 sobre Defectos Congénitos, of Spain to E. B.‐S. and I. R. G.
dc.description.statementofresponsibility	Abdelfattah, F., Kariminejad, A., Kahlert, A.-K., Morrison, P.J., Gumus, E., Mathews, K.D., Darbro, B.W., Amor, D.J., Walsh, M., Sznajer, Y., Weiß, L., Weidensee, S., Chitayat, D., Shannon, P., Bermejo-Sánchez, E., Riaño-Galán, I., Hayes, I., Poke, G., Rooryck, C., Pennamen, P., Khung-Savatovsky, S., Toutain, A., Vuillaume, M.-L., Ghaderi-Sohi, S., Kariminejad, M.H., Weinert, S., Sticht, H., Zenker, M., Schanze, D.
dc.format.extent	p. 1615-1628
dc.language.iso	eng
dc.relation.ispartof	Human Mutation
dc.rights	© 2020 The Authors. Human Mutation published by Wiley Periodicals LLC
dc.rights	CC Reconocimiento - No comercial - Sin obras derivadas 4.0 Internacional
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.source	Scopus
dc.source.uri	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85087967026&doi=10.1002%2fhumu.24067&partnerID=40&md5=ec1d49c88e85c3c27af95e06a143d54c
dc.title	Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
dc.type	journal article
dc.identifier.doi	10.1002/humu.24067
dc.relation.projectID	ISCIII-ASEREMAC
dc.relation.publisherversion	http://dx.doi.org/10.1002/humu.24067
dc.rights.accessRights	open access
dc.type.hasVersion	VoR

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