Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellit...
Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite
About this item
Full title
Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite
Author / Creator
Publisher
England
Journal title
Journal of human genetics, 2003, Vol.48 (2), p.107-109
Language
English
Formats
Publication information
Publisher
England
Subjects
More information
Scope and Contents
Contents
Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by a widely heterogeneous clinical presentation. Only a subset of clinically diagnosed patients carry RECQL4 gene mutations, probably because of their genetic heterogeneity and/or the complexity of molecular testing. We here describe the polymorphic sites of the RECQL4 g...
Alternative Titles
Full title
Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_73037079
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_73037079
Other Identifiers
ISSN
1434-5161
