Publication:
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

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dc.bibliographiccitation.issue9
dc.bibliographiccitation.journalMolecular Genetics & Genomic Medicine
dc.bibliographiccitation.volume8
dc.contributor.authorStaretz‐Chacham, Orna
dc.contributor.authorSchlotawa, Lars
dc.contributor.authorWormser, Ohad
dc.contributor.authorGolan‐Tripto, Inbal
dc.contributor.authorBirk, Ohad S.
dc.contributor.authorFerreira, Carlos R.
dc.contributor.authorDierks, Thomas
dc.contributor.authorRadhakrishnan, Karthikeyan
dc.date.accessioned2021-04-14T08:27:40Z
dc.date.available2021-04-14T08:27:40Z
dc.date.issued2020
dc.identifier.doi10.1002/mgg3.1167
dc.identifier.urihttps://resolver.sub.uni-goettingen.de/purl?gro-2/82367
dc.language.isoen
dc.notes.internDOI Import GROB-399
dc.relation.eissn2324-9269
dc.relation.issn2324-9269
dc.titleA homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
dc.typejournal_article
dc.type.internalPublicationyes
dspace.entity.typePublication

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