Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

M. Kroos; M. Hoogeveen-Westerveld; H. Michelakis; R. Pomponia; A. van der Ploeg; D. Halley; A. Reuser; P. Augoustides-Savvopoulou; M.G.E.M. Ausems; [No Value] et al; K. Verhoeven

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Translated title of the contribution: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

M. Kroos, M. Hoogeveen-Westerveld, H. Michelakis, R. Pomponia, A. van der Ploeg, D. Halley, A. Reuser, P. Augoustides-Savvopoulou, M.G.E.M. Ausems, [No Value] et al, K. Verhoeven

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
Original language	Undefined/Unknown
Pages (from-to)	1161-1165
Number of pages	5
Journal	Human Mutation
Volume	33
Issue number	8
Publication status	Published - 2012

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http://www.ncbi.nlm.nih.gov/pubmed/22644586

Cite this

Kroos, M., Hoogeveen-Westerveld, M., Michelakis, H., Pomponia, R., van der Ploeg, A., Halley, D., Reuser, A., Augoustides-Savvopoulou, P., Ausems, M. G. E. M., et al, N. V., & Verhoeven, K. (2012). Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Human Mutation, 33(8), 1161-1165. http://www.ncbi.nlm.nih.gov/pubmed/22644586

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title = "Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants",

author = "M. Kroos and M. Hoogeveen-Westerveld and H. Michelakis and R. Pomponia and {van der Ploeg}, A. and D. Halley and A. Reuser and P. Augoustides-Savvopoulou and M.G.E.M. Ausems and {et al}, {[No Value]} and K. Verhoeven",

year = "2012",

language = "Undefined/Unknown",

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journal = "Human Mutation",

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Kroos, M, Hoogeveen-Westerveld, M, Michelakis, H, Pomponia, R, van der Ploeg, A, Halley, D, Reuser, A, Augoustides-Savvopoulou, P, Ausems, MGEM, et al, NV & Verhoeven, K 2012, 'Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants', Human Mutation, vol. 33, no. 8, pp. 1161-1165. <http://www.ncbi.nlm.nih.gov/pubmed/22644586>

TY - JOUR

T1 - Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

AU - Kroos, M.

AU - Hoogeveen-Westerveld, M.

AU - Michelakis, H.

AU - Pomponia, R.

AU - van der Ploeg, A.

AU - Halley, D.

AU - Reuser, A.

AU - Augoustides-Savvopoulou, P.

AU - Ausems, M.G.E.M.

AU - et al, [No Value]

AU - Verhoeven, K.

PY - 2012

Y1 - 2012

M3 - Article

SN - 1059-7794

VL - 33

SP - 1161

EP - 1165

JO - Human Mutation

JF - Human Mutation

IS - 8

ER -