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https://hdl.handle.net/2440/11467
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dc.contributor.author | Donnelly, A. | - |
dc.contributor.author | Haan, E. | - |
dc.contributor.author | Manson, J. | - |
dc.contributor.author | Mulley, J. | - |
dc.date.issued | 1998 | - |
dc.identifier.citation | Human Mutation, 1998; 11(4):334- | - |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.issn | 1098-1004 | - |
dc.identifier.uri | http://hdl.handle.net/2440/11467 | - |
dc.description | Article first published online: 22 NOV 1999 | - |
dc.description.abstract | The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband and his mother, compared to that observed upon analysis of the PCR products from other members of the family and 159 unrelated X chromosomes. Sequencing revealed a C775 to T transition, in the proband and his mother, but not in his unaffected brother. To confirm the presence of a base change in this region, a Cfol site was introduced into the PCR product of the wildtype allele by using the forward primer 5'-AGAAAATAAGACGGTCATTGcG-3' (mismatch base in small font) with the exon b reverse primer as used by Laporte et al (1996). Analysis of DNA from other members of the family using this method revealed that this is a new mutation in the proband's mother. This mutation would result in a Arg259->Cys substitution. | - |
dc.language.iso | en | - |
dc.publisher | WILEY-LISS | - |
dc.rights | Copyright © 1998 Wiley-Liss, Inc. | - |
dc.source.uri | http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1098-1004(1998)11:4%3C334::AID-HUMU20%3E3.0.CO;2-%23/abstract | - |
dc.subject | X Chromosome | - |
dc.subject | Humans | - |
dc.subject | Muscular Diseases | - |
dc.subject | Cysteine | - |
dc.subject | Arginine | - |
dc.subject | Amino Acid Substitution | - |
dc.subject | Polymerase Chain Reaction | - |
dc.subject | Mutation | - |
dc.subject | Alleles | - |
dc.subject | Exons | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Protein Tyrosine Phosphatases | - |
dc.subject | Protein Tyrosine Phosphatases, Non-Receptor | - |
dc.title | A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/(sici)1098-1004(1998)11:4<334::aid-humu20>3.3.co;2-r | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Haan, E. [0000-0002-7310-5124] | - |
Appears in Collections: | Aurora harvest 7 Genetics publications |
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