| Original language | English |
|---|---|
| Journal | Nature Genetics |
| Volume | 44 |
| Issue number | 4 |
| Pages (from-to) | 450-U136 |
| Number of pages | 8 |
| ISSN | 1061-4036 |
| DOIs | |
| Publication status | Published - 2012 |
| MoE publication type | A1 Journal article-refereed |
Fields of Science
- T-CELLS
- PROTEIN
- MRJ
- FAMILY
- HSP70
- IDENTIFICATION
- AGGREGATION
- SPECIFICITY
- HUNTINGTIN
- AUTOPHAGY
- 3111 Biomedicine
Cite this
}
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. / Sarparanta, Jaakko; Jonson, Per Harald; Golzio, Christelle; Sandell, Satu; Luque, Helena; Screen, Mark; McDonald, Kristin; Stajich, Jeffrey M.; Mahjneh, Ibrahim; Vihola, Anna; Raheem, Olayinka; Penttila, Sini; Lehtinen, Sara; Huovinen, Sanna; Palmio, Johanna; Tasca, Giorgio; Ricci, Enzo; Hackman, Peter; Hauser, Michael; Katsanis, Nicholas; Udd, Bjarne.
In: Nature Genetics, Vol. 44, No. 4, 2012, p. 450-U136.Research output: Contribution to journal › Article › Scientific › peer-review
TY - JOUR
T1 - Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
AU - Sarparanta, Jaakko
AU - Jonson, Per Harald
AU - Golzio, Christelle
AU - Sandell, Satu
AU - Luque, Helena
AU - Screen, Mark
AU - McDonald, Kristin
AU - Stajich, Jeffrey M.
AU - Mahjneh, Ibrahim
AU - Vihola, Anna
AU - Raheem, Olayinka
AU - Penttila, Sini
AU - Lehtinen, Sara
AU - Huovinen, Sanna
AU - Palmio, Johanna
AU - Tasca, Giorgio
AU - Ricci, Enzo
AU - Hackman, Peter
AU - Hauser, Michael
AU - Katsanis, Nicholas
AU - Udd, Bjarne
PY - 2012
Y1 - 2012
KW - T-CELLS
KW - PROTEIN
KW - MRJ
KW - FAMILY
KW - HSP70
KW - IDENTIFICATION
KW - AGGREGATION
KW - SPECIFICITY
KW - HUNTINGTIN
KW - AUTOPHAGY
KW - 3111 Biomedicine
U2 - 10.1038/ng.1103
DO - 10.1038/ng.1103
M3 - Article
VL - 44
SP - 450-U136
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -