Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Publication year
2018Source
European Journal of Human Genetics, 26, 3, (2018), pp. 407-419ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
Paediatrics
Laboratory Medicine
Journal title
European Journal of Human Genetics
Volume
vol. 26
Issue
iss. 3
Page start
p. 407
Page end
p. 419
Subject
Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences; Laboratory Medicine - Radboud University Medical Center; Paediatrics - Radboud University Medical Center; Radboud University Medical CenterThis item appears in the following Collection(s)
- Academic publications [245131]
- Electronic publications [132467]
- Faculty of Medical Sciences [93207]
- Open Access publications [106059]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.