Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7369
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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Isbrandt, D. | - |
dc.contributor.author | Hopwood, J. | - |
dc.contributor.author | von Figura, K. | - |
dc.contributor.author | Peters, C. | - |
dc.date.issued | 1996 | - |
dc.identifier.citation | Human Mutation, 1996; 7(4):361-363 | - |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.issn | 1098-1004 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7369 | - |
dc.language.iso | en | - |
dc.publisher | Hindawi Limited | - |
dc.source.uri | http://dx.doi.org/10.1002/(sici)1098-1004(1996)7:4%3C361::aid-humu12%3E3.0.co;2-0 | - |
dc.subject | Humans | - |
dc.subject | Mucopolysaccharidosis IV | - |
dc.subject | Codon, Terminator | - |
dc.subject | DNA Primers | - |
dc.subject | Amino Acid Sequence | - |
dc.subject | Base Sequence | - |
dc.subject | Heterozygote | - |
dc.subject | Frameshift Mutation | - |
dc.subject | Open Reading Frames | - |
dc.subject | Molecular Sequence Data | - |
dc.subject | Child, Preschool | - |
dc.title | Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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