3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants

S. Vaeth; G. Hoffmann Bruun; R. Christensen; M. Thusholt; B. S. Andresen; H. Andersen; U. Jensen

3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants

S. Vaeth, G. Hoffmann Bruun, R. Christensen, M. Thusholt, B. S. Andresen, H. Andersen, U. Jensen

Department of Biochemistry and Molecular Biology

Research output: Contribution to journal › Conference abstract in journal › Research

Original language	English
Article number	P10.08D
Journal	European Journal of Human Genetics
Volume	26
Pages (from-to)	424
Number of pages	1
ISSN	1018-4813
Publication status	Published - Oct 2018
Event	50th European Human Genetics Conference: Anniversary Meeting - Bella Center, Center Blvd. 5, Copenhagen, Denmark Duration: 27. May 2017 → 30. May 2017 Conference number: 50 https://2017.eshg.org/

Conference

Conference	50th European Human Genetics Conference
Number	50
Location	Bella Center, Center Blvd. 5
Country/Territory	Denmark
City	Copenhagen
Period	27/05/2017 → 30/05/2017
Internet address	https://2017.eshg.org/

Documents & Links

https://doi.org/10.1038/s41431-018-0247-7

Cite this

Vaeth, S., Bruun, G. H., Christensen, R., Thusholt, M., Andresen, B. S., Andersen, H., & Jensen, U. (2018). 3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants. European Journal of Human Genetics, 26, 424. [P10.08D]. https://doi.org/10.1038/s41431-018-0247-7

@article{86e076a961c642e1811fcb548a182f7f,

title = "3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants",

author = "S. Vaeth and Bruun, {G. Hoffmann} and R. Christensen and M. Thusholt and Andresen, {B. S.} and H. Andersen and U. Jensen",

note = "50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017; 50th European Human Genetics Conference : Anniversary Meeting, ESHG 2017 ; Conference date: 27-05-2017 Through 30-05-2017",

year = "2018",

month = oct,

language = "English",

volume = "26",

pages = "424",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

url = "https://2017.eshg.org/",

}

Vaeth, S, Bruun, GH, Christensen, R, Thusholt, M, Andresen, BS, Andersen, H & Jensen, U 2018, '3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants', European Journal of Human Genetics, vol. 26, P10.08D, pp. 424. <https://doi.org/10.1038/s41431-018-0247-7>

3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants. / Vaeth, S.; Bruun, G. Hoffmann; Christensen, R. et al.

In: European Journal of Human Genetics, Vol. 26, P10.08D, 10.2018, p. 424.

Research output: Contribution to journal › Conference abstract in journal › Research

TY - ABST

T1 - 3´splice site mutations in INF2 cause Charcot Marie Tooths disease without focal segmental glomerulosclerosis: Implication of differential function of alternative splice variants

AU - Vaeth, S.

AU - Bruun, G. Hoffmann

AU - Christensen, R.

AU - Thusholt, M.

AU - Andresen, B. S.

AU - Andersen, H.

AU - Jensen, U.

N1 - Conference code: 50

PY - 2018/10

Y1 - 2018/10

M3 - Conference abstract in journal

SN - 1018-4813

VL - 26

SP - 424

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

M1 - P10.08D

T2 - 50th European Human Genetics Conference

Y2 - 27 May 2017 through 30 May 2017

ER -