WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and et...
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
About this item
Full title
Author / Creator
Friedrich, Katrin , Lee, Lin , Leistritz, Dru F , Nürnberg, Gudrun , Saha, Bidisha , Hisama, Fuki M , Eyman, Daniel K , Lessel, Davor , Nürnberg, Peter , Li, Chumei , Garcia-F-Villalta, María J , Kets, Carolien M , Schmidtke, Joerg , Cruz, Vítor Tedim , Van den Akker, Peter C , Boak, Joseph , Peter, Dincy , Compoginis, Goli , Cefle, Kivanc , Ozturk, Sukru , López, Norberto , Wessel, Theda , Poot, Martin , Ippel, P. F , Groff-Kellermann, Birgit , Hoehn, Holger , Martin, George M , Kubisch, Christian and Oshima, Junko
Publisher
Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutati...
Alternative Titles
Full title
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
Authors, Artists and Contributors
Author / Creator
Lee, Lin
Leistritz, Dru F
Nürnberg, Gudrun
Saha, Bidisha
Hisama, Fuki M
Eyman, Daniel K
Lessel, Davor
Nürnberg, Peter
Li, Chumei
Garcia-F-Villalta, María J
Kets, Carolien M
Schmidtke, Joerg
Cruz, Vítor Tedim
Van den Akker, Peter C
Boak, Joseph
Peter, Dincy
Compoginis, Goli
Cefle, Kivanc
Ozturk, Sukru
López, Norberto
Wessel, Theda
Poot, Martin
Ippel, P. F
Groff-Kellermann, Birgit
Hoehn, Holger
Martin, George M
Kubisch, Christian
Oshima, Junko
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4686336
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4686336
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-010-0832-5
