Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding

A. Martinez Pizarro, M. Dembic, B. Perez, B. S. Andresen, L. R. Desviat

Publikation: Bidrag til tidsskriftKonferenceabstrakt i tidsskriftForskning

OriginalsprogEngelsk
ArtikelnummerP13.22B
TidsskriftEuropean Journal of Human Genetics
Vol/bind26
Sider (fra-til)621-622
Antal sider2
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