A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss-Reference-Cited by-同舟云学术

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

Published:2017-11-24 Issue:1 Volume:93 Page:173-177
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Paakkola T.¹²³^ORCID,Vuopala K.⁴,Kokkonen H.⁵,Ignatius J.⁶,Valkama M.¹²⁷,Moilanen J.S.¹²⁶^ORCID,Fahiminiya S.⁸,Majewski J.⁸,Hinttala R.¹²³,Uusimaa J.¹²³⁷

Affiliation:

1. PEDEGO Research Unit; University of Oulu; Oulu Finland

2. Medical Research Center; University of Oulu, Oulu University Hospital; Oulu Finland

3. Biocenter Oulu; University of Oulu; Oulu Finland

4. Department of Pathology; Lapland Central Hospital; Rovaniemi Finland

5. Northern Finland Laboratory Centre Nordlab and Medical Research Centre; Oulu University Hospital and University of Oulu; Oulu Finland

6. Department of Clinical Genetics; Oulu University Hospital; Oulu Finland

7. Department of Children and Adolescents, Division of Pediatric Neurology; Oulu University Hospital; Oulu Finland

8. Department of Human Genetics; McGill University; Montreal Canada

Funder

Academy of Finland

Sigrid Juselius Foundation

Lastentautien Tutkimussäätiö

Marie Curie IOF of the European Union's Seventh Framework Programme

Special State Grants for Health Research in the Department of Pediatrics and Adolescence at Oulu University Hospital

The Alma and K. A. Snellman Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13086/fullpdf

Reference14 articles.

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4. Lethal arthrogryposis with anterior horn cell disease;Vuopala;Hum Pathol,1995

5. Lethal arthrogryposis in Finland-a clinico-pathological study of 83 cases during thirteen years;Vuopala;Neuropediatrics,1994

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