A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

Elsebet Ostergaard; Frodi Joensen; Karin Sundberg; Morten Duno; Flemming Juul Hansen; Mustafa Batbayli; Nicolina Sørensen; Alfred Peter Born

doi:10.1111/j.1651-2227.2012.02807.x

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

Elsebet Ostergaard, Frodi Joensen, Karin Sundberg, Morten Duno, Flemming Juul Hansen, Mustafa Batbayli, Nicolina Sørensen, Alfred Peter Born

7 Citations (Scopus)

Abstract

The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands.

Original language	English
Journal	Acta paediatrica
Volume	101
Issue number	11
Pages (from-to)	e509-13
ISSN	0803-5253
DOIs	https://doi.org/10.1111/j.1651-2227.2012.02807.x
Publication status	Published - 2012

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10.1111/j.1651-2227.2012.02807.x

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title = "A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands",

abstract = "The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands.",

author = "Elsebet Ostergaard and Frodi Joensen and Karin Sundberg and Morten Duno and Hansen, \{Flemming Juul\} and Mustafa Batbayli and Nicolina S{\o}rensen and Born, \{Alfred Peter\}",

note = "{\textcopyright} 2012 The Author(s)/Acta Paediatrica {\textcopyright} 2012 Foundation Acta Paediatrica.",

year = "2012",

doi = "10.1111/j.1651-2227.2012.02807.x",

language = "English",

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T1 - A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

AU - Ostergaard, Elsebet

AU - Joensen, Frodi

AU - Sundberg, Karin

AU - Duno, Morten

AU - Hansen, Flemming Juul

AU - Batbayli, Mustafa

AU - Sørensen, Nicolina

AU - Born, Alfred Peter

PY - 2012

Y1 - 2012

N2 - The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands.

AB - The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands.

UR - https://www.scopus.com/pages/publications/84867103454

U2 - 10.1111/j.1651-2227.2012.02807.x

DO - 10.1111/j.1651-2227.2012.02807.x

M3 - Journal article

C2 - 22882256

SN - 0803-5253

VL - 101

SP - e509-13

JO - Acta paediatrica

JF - Acta paediatrica

IS - 11

ER -

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

Abstract

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