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

Publikation: Bidrag til tidsskriftKonferenceabstrakt i tidsskriftForskning

OriginalsprogEngelsk
ArtikelnummerP10.08D
TidsskriftEuropean Journal of Human Genetics
Vol/bind26
Sider (fra-til)424
Antal sider1
ISSN1018-4813
StatusUdgivet - okt. 2018
Begivenhed50th European Human Genetics Conference: Anniversary Meeting - Bella Center, Center Blvd. 5, Copenhagen, Danmark
Varighed: 27. maj 201730. maj 2017
Konferencens nummer: 50
https://2017.eshg.org/

Konference

Konference50th European Human Genetics Conference
Nummer50
LokationBella Center, Center Blvd. 5
LandDanmark
ByCopenhagen
Periode27/05/201730/05/2017
Internetadresse

Bibliografisk note

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017

Citationsformater