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Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

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Metadaten
Document Type:Article
Language:English
Author:Lisenka E. L. M. Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae-Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger, Jörn Oliver Sass, Joris A. Veltman, Han G. Brunner, Luisa Bonafé, Carlo Dionisi-Vici, Andrea Superti-Furga
Parent Title (English):Am J Med Genet A. (American Journal of Medical Genetics, Part A)
Volume:155
Issue:11
First Page:2609
Last Page:2616
ISSN:1552-4825
DOI:https://doi.org/10.1002/ajmg.a.34325
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=22025298
Publisher:Wiley
Publication year:2011
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18