A type i interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

Journal of Medical Genetics

Volumn 51, Issue 2, 2014, Pages 76-82

  Livingston, John H ^a   Lin, Jean Pierre ^b   Dale, Russell C ^c   Gill, Deepak ^c   Brogan, Paul ^d,e   Munnich, Arnold ^f   Kurian, Manju A ^d,g   Gonzalez Martinez, Victoria ^h   De Goede, Christian G E L ⁱ   Falconer, Alastair ^j   Forte, Gabriella ^k   Jenkinson, Emma M ^k   Kasher, Paul R ^k   Szynkiewicz, Marcin ^k   Rice, Gillian I ^k   Crow, Yanick J ^a,k,l  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f IMAGINE INSTITUTE   (France)

^g Great Ormond Street Hospital NHS Foundation Trust ^*  (United Kingdom)

^h GUI DE CHAULIAC HOSPITAL   (France)

ⁱ ROYAL PRESTON HOSPITAL   (United Kingdom)

^j SCARBOROUGH HOSPITAL   (United Kingdom)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; IMMUNOLOGY (INCLUDING ALLERGY); MOLECULAR GENETICS; NEUROLOGY;

ADENOSINE DEAMINASE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTERFERON TYPE I; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; STRIATONIGRAL DEGENERATION;

EID: 84894063757     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102038     Document Type: Article

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