Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism-Reference-Cited by-同舟云学术

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Published:2012-08-26 Issue:10 Volume:44 Page:1152-1155
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Coelho David,Kim Jaeseung C,Miousse Isabelle R,Fung Stephen,du Moulin Marcel,Buers Insa,Suormala Terttu,Burda Patricie,Frapolli Michele,Stucki Martin,Nürnberg Peter,Thiele Holger,Robenek Horst,Höhne Wolfgang,Longo Nicola,Pasquali Marzia,Mengel Eugen,Watkins David,Shoubridge Eric A,Majewski Jacek,Rosenblatt David S,Fowler Brian,Rutsch Frank,Baumgartner Matthias R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2386.pdf

Reference35 articles.

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2. Coelho, D. et al. Gene identification for the cblD defect of vitamin B12 metabolism. N. Engl. J. Med. 358, 1454–1464 (2008).

3. Rutsch, F. et al. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat. Genet. 41, 234–239 (2009).

4. Rosenblatt, D.S., Hosack, A., Matiaszuk, N.V., Cooper, B.A. & Laframboise, R. Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Science 228, 1319–1321 (1985).

5. Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248–249 (2010).

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