A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia-Reference-Cited by-同舟云学术

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

Published:2015-12-10 Issue:2 Volume:37 Page:165-169
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Yang Ying¹²,Liu Wei³,Fang Zhipeng⁴,Shi Juan⁵,Che Fengyu²,He Chunxia¹²,Yao Libo¹,Wang Enduo⁴,Wu Yuanming¹²

Affiliation:

1. Department of Biochemistry and Molecular Biology; Xi'an Shaanxi 710032 China

2. Center for DNA Typing; Xi'an Shaanxi 710032 China

3. Department of physiotherapy; Xijing Hospital; Fourth Military Medical University; Xi'an Shaanxi 710032 China

4. Center for RNA Research; State Key Laboratory of Molecular Biology; Institute of Biochemistry and Cell Biology; Shanghai Institutes for Biological Sciences; The Chinese Academy of Sciences; Shanghai 710031 China

5. Department of Anatomy; Histology and Embryology & K.K. Leung Brain Research Centre; Preclinical School of Medicine; Fourth Military Medical University; Xi'an Shaanxi 200032 China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22930/fullpdf

Reference23 articles.

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2. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother;Aulitzky;J Neurol Sci,2014

3. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome;Belostotsky;Am J Hum Genet,2011

4. Hereditary spastic paraplegias: membrane traffic and the motor pathway;Blackstone;Nat Rev Neurosci,2011

5. The Mitochondrial aminoacyl tRNA synthetases: genes and syndromes;Diodato;Int J Cell Biol,2014

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