Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

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Bibliographic Details
Title: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Authors: Sloan JL; Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA., Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP
Corporate Authors: NIH Intramural Sequencing Center Group
Source: Nature genetics [Nat Genet] 2011 Aug 14; Vol. 43 (9), pp. 883-6. Date of Electronic Publication: 2011 Aug 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1546-1718
DOI:10.1038/ng.908