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

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

Department of Biochemistry and Molecular Biology

Centro de Biología Molecular "Severo Ochoa" (Consejo Superior de Investigaciones Científicas & Universidad Autónoma de Madrid), Madrid, Spain.

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

Original language	English
Article number	P13.22B
Journal	European Journal of Human Genetics
Volume	26
Pages (from-to)	621-622
Number of pages	2
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

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Cite this

@article{c0877f9913de46bea755273214ecbbeb,

title = "Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding",

author = "{Martinez Pizarro}, A. and M. Dembic and B. Perez and Andresen, {B. S.} and Desviat, {L. R.}",

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 = "621--622",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

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

}

TY - ABST

T1 - Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding

AU - Martinez Pizarro, A.

AU - Dembic, M.

AU - Perez, B.

AU - Andresen, B. S.

AU - Desviat, L. R.

N1 - Conference code: 50

PY - 2018/10

Y1 - 2018/10

M3 - Conference abstract in journal

C2 - 30275485

SN - 1018-4813

VL - 26

SP - 621

EP - 622

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

M1 - P13.22B

T2 - 50th European Human Genetics Conference

Y2 - 27 May 2017 through 30 May 2017

ER -