Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

D. Flint; R. Li; L.S. Webster; S. Naidu; E. Kolodny; A. Percy; M.S. van der Knaap; J.M. Powers; J.F. Mantovani; J. Ekstein; J.E. Goldman; A. Messing; M. Brenner

doi:10.1002/humu.22094

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

D. Flint, R. Li, L.S. Webster, S. Naidu, E. Kolodny, A. Percy, M.S. van der Knaap, J.M. Powers, J.F. Mantovani, J. Ekstein, J.E. Goldman, A. Messing, M. Brenner

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	1141-1148
Journal	Human Mutation
Volume	33
Issue number	7
DOIs	https://doi.org/10.1002/humu.22094
Publication status	Published - 2012

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10.1002/humu.22094

Cite this

@article{1bb00f3a42e94f2f8d63bfe151e45962,

title = "Splice site, frameshift, and chimeric GFAP mutations in Alexander disease",

author = "D. Flint and R. Li and L.S. Webster and S. Naidu and E. Kolodny and A. Percy and {van der Knaap}, M.S. and J.M. Powers and J.F. Mantovani and J. Ekstein and J.E. Goldman and A. Messing and M. Brenner",

year = "2012",

doi = "10.1002/humu.22094",

language = "Undefined/Unknown",

volume = "33",

pages = "1141--1148",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "7",

}

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. / Flint, D.; Li, R.; Webster, L.S.; Naidu, S.; Kolodny, E.; Percy, A.; van der Knaap, M.S.; Powers, J.M.; Mantovani, J.F.; Ekstein, J.; Goldman, J.E.; Messing, A.; Brenner, M.

In: Human Mutation, Vol. 33, No. 7, 2012, p. 1141-1148.

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

TY - JOUR

T1 - Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

AU - Flint, D.

AU - Li, R.

AU - Webster, L.S.

AU - Naidu, S.

AU - Kolodny, E.

AU - Percy, A.

AU - van der Knaap, M.S.

AU - Powers, J.M.

AU - Mantovani, J.F.

AU - Ekstein, J.

AU - Goldman, J.E.

AU - Messing, A.

AU - Brenner, M.

PY - 2012

Y1 - 2012

U2 - 10.1002/humu.22094

DO - 10.1002/humu.22094

M3 - Article

C2 - 22488673

VL - 33

SP - 1141

EP - 1148

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 7

ER -