Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub

Open source

DOI: 10.1186/s13023-017-0722-1
Published: 2017-11-17
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-017-0722-1,
  title = {Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness},
  author = {Katherine Johnson and Ana Töpf and Marta Bertoli and Lauren Phillips and Kristl G. Claeys and Vidosava Rakocevic Stojanovic and Stojan Perić and Andreas Hahn and Paul Maddison and Ela Akay and Alexandra E. Bastian and Anna Łusakowska and Anna Kostera-Pruszczyk and Monkol Lek and Liwen Xu and Daniel G. MacArthur and Volker Straub},
  year = {2017},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-017-0722-1},
  url = {https://doi.org/10.1186/s13023-017-0722-1}
}

RIS

TY  - JOUR
TI  - Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
AU  - Katherine Johnson
AU  - Ana Töpf
AU  - Marta Bertoli
AU  - Lauren Phillips
AU  - Kristl G. Claeys
AU  - Vidosava Rakocevic Stojanovic
AU  - Stojan Perić
AU  - Andreas Hahn
AU  - Paul Maddison
AU  - Ela Akay
AU  - Alexandra E. Bastian
AU  - Anna Łusakowska
AU  - Anna Kostera-Pruszczyk
AU  - Monkol Lek
AU  - Liwen Xu
AU  - Daniel G. MacArthur
AU  - Volker Straub
PY  - 2017
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-017-0722-1
UR  - https://doi.org/10.1186/s13023-017-0722-1
ER  -

APA

Johnson, K., Töpf, A., Bertoli, M., Phillips, L., Claeys, K. G., Stojanovic, V. R., Perić, S., Hahn, A., Maddison, P., Akay, E., Bastian, A. E., Łusakowska, A., Kostera-Pruszczyk, A., Lek, M., Xu, L., MacArthur, D. G., & Straub, V. (2017). Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-017-0722-1

Source records

crossref · retrieved 2026-09-27T13:11:16.227Z