Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
| 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): | 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 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/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 |
