An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy-Reference-Cited by-同舟云学术

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Published:2013-06-16 Issue:8 Volume:45 Page:947-950
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Weedon Michael N,Ellard Sian,Prindle Marc J,Caswell Richard,Allen Hana Lango,Oram Richard,Godbole Koumudi,Yajnik Chittaranjan S,Sbraccia Paolo,Novelli Giuseppe,Turnpenny Peter,McCann Emma,Goh Kim Jee,Wang Yukai,Fulford Jonathan,McCulloch Laura J,Savage David B,O'Rahilly Stephen,Kos Katarina,Loeb Lawrence A,Semple Robert K,Hattersley Andrew T

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2670.pdf

Reference30 articles.

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2. Palles, C. et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat. Genet. 45, 136–144 (2013).

3. Shastry, S. et al. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J. Clin. Endocrinol. Metab. 95, E192–E197 (2010).

4. Semple, R.K., Savage, D.B., Cochran, E.K., Gorden, P. & O'Rahilly, S. Genetic syndromes of severe insulin resistance. Endocr. Rev. 32, 498–514 (2011).

5. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760 (2009).

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