Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7355
Citations | ||
Scopus | Web of ScienceĀ® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Nancarrow, J. | - |
dc.contributor.author | Holman, K. | - |
dc.contributor.author | Hori, T. | - |
dc.contributor.author | Denton, M. | - |
dc.contributor.author | Sutherland, G. | - |
dc.contributor.author | Richards, R. | - |
dc.date.issued | 1995 | - |
dc.identifier.citation | Human Molecular Genetics, 1995; 4(3):367-372 | - |
dc.identifier.issn | 0964-6906 | - |
dc.identifier.issn | 1460-2083 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7355 | - |
dc.description.abstract | Rare, folate-sensitive fragile sites are the result of the unstable expansion of trinucleotide p(CCG)n repeats, which are normally polymorphic in copy number. Differences in the number and frequency of alleles of the fragile site FRA16A p(CCG)n repeat were observed between different ethnic populations suggesting that certain alleles might be predisposed to instability. Sequence analysis demonstrated that the longer and more variable alleles were associated with loss of repeat interruption. Perfect repeat configuration therefore appears to be a necessary precondition for the instability associated with fragile site genesis. | - |
dc.description.statementofresponsibility | Nancarrow, J K ; Holman, K ; Mangelsdorf, M ; Hori, T ; Denton, M ; Sutherland, G R ; Richards, R I | - |
dc.language.iso | en | - |
dc.publisher | IRL Press | - |
dc.source.uri | http://dx.doi.org/10.1093/hmg/4.3.367 | - |
dc.subject | Chromosomes, Human | - |
dc.subject | Humans | - |
dc.subject | Chromosome Fragility | - |
dc.subject | Folic Acid | - |
dc.subject | Polymerase Chain Reaction | - |
dc.subject | Sequence Analysis, DNA | - |
dc.subject | Base Sequence | - |
dc.subject | Repetitive Sequences, Nucleic Acid | - |
dc.subject | Gene Frequency | - |
dc.subject | Alleles | - |
dc.subject | Chromosome Fragile Sites | - |
dc.subject | Models, Genetic | - |
dc.subject | Molecular Sequence Data | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Asian People | - |
dc.subject | White People | - |
dc.title | Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/hmg/4.3.367 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.