Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
- 期刊名称Orphanet Journal of Rare Diseases
- 作者Lévesque, Sébastien; Auray-Blais, Christiane; Gravel, Elaine; Boutin, Michel; Dempsey-Nunez, Laura; Jacques, Pierre-Etienne; Chenier, Sébastien; Larue, Sandrine; Rioux, Marie-France; Al-Hertani, Walla; Nadeau, Amelie; Mathieu, Jean; Maranda, Bruno; Désilets, Valérie; Waters, Paula J.; Keutzer, Joan; Austin, Stephanie; Kishnani, Priya
- 卷第11卷
- 期第1期
- 电子ISSN1750-1172
- 文件大小534.38KB
- 发表时间2016-12
- DOI10.1186/s13023-016-0390-6
Reviewer acknowledgement 2014Aymé, Ségolène · Orphanet Journal of Rare Diseases · 2014
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