Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

Marina Flotats-Bastardas; Eva Hebert; Miquel Raspall-Chaure; Francina Munell; Alfons Macaya; Katja Lohmann

doi:10.1055/s-0038-1626709

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

Marina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, Francina Munell, Alfons Macaya^*, Katja Lohmann

^*Corresponding author for this work

Institute of Neurogenetics

Original language	English
Journal	Neuropediatrics
Volume	49
Issue number	4
Pages (from-to)	296-297
Number of pages	2
ISSN	0174-304X
DOIs	https://doi.org/10.1055/s-0038-1626709
Publication status	Published - 01.08.2018

Research Areas and Centers

Research Area: Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1055/s-0038-1626709

Cite this

@article{c5cbe3e3999b42d28bcbdb236b7d658b,

title = "Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia",

author = "Marina Flotats-Bastardas and Eva Hebert and Miquel Raspall-Chaure and Francina Munell and Alfons Macaya and Katja Lohmann",

year = "2018",

month = aug,

day = "1",

doi = "10.1055/s-0038-1626709",

language = "English",

volume = "49",

pages = "296--297",

journal = "Neuropediatrics",

issn = "0174-304X",

number = "4",

}

TY - JOUR

T1 - Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

AU - Flotats-Bastardas, Marina

AU - Hebert, Eva

AU - Raspall-Chaure, Miquel

AU - Munell, Francina

AU - Macaya, Alfons

AU - Lohmann, Katja

PY - 2018/8/1

Y1 - 2018/8/1

UR - http://www.scopus.com/inward/record.url?scp=85042582852&partnerID=8YFLogxK

U2 - 10.1055/s-0038-1626709

DO - 10.1055/s-0038-1626709

M3 - Short survey

C2 - 29471552

AN - SCOPUS:85042582852

SN - 0174-304X

VL - 49

SP - 296

EP - 297

JO - Neuropediatrics

JF - Neuropediatrics

IS - 4

ER -

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia

Research Areas and Centers

UN SDGs

Access to Document

Other files and links

Cite this