WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations-Reference-Cited by-同舟云学术

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Published:2010-05-05 Issue:1 Volume:128 Page:103-111
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

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,Oshima Junko

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0832-5.pdf

Reference37 articles.

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2. Buratti E, Baralle M, Baralle FE (2006) Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 34:3494–3510

3. Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J (2003) LMNA mutations in atypical Werner’s syndrome. Lancet 362:440–445

4. Epstein CJ, Martin GM, Schultz AL, Motulsky AG (1966) Werner’s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) 45:177–221

5. Goto M (1997) Hierarchical deterioration of body systems in Werner’s syndrome: implications for normal ageing. Mech Ageing Dev 98:239–254

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