Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45-Reference-Cited by-同舟云学术

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Published:2017-09-08 Issue:11 Volume:173 Page:3109-3113
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Straussberg Rachel¹²,Onoufriadis Alexandros³^ORCID,Konen Osnat²⁴,Zouabi Yasmin¹²,Cohen Lior²⁵,Lee John Y.W.³,Hsu Chao-Kai³,Simpson Michael A.⁶,McGrath John A.³

Affiliation:

1. Neurogenetic Clinic, Neurology Institute; Schneider Children's Medical Center; Petah Tikva Israel

2. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

3. St John's Institute of Dermatology, Division of Genetics and Molecular Medicine; King's College London; London UK

4. Radiology Institute; Schneider Children's Medical Center; Petah Tikva Israel

5. Genetic Institute; Schneider Children's Medical Center; Petah Tikva Israel

6. Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine; King's College London; Guy's Hospital; London UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. A comprehensive family-based replication study of schizophrenia genes;Aberg;JAMA Psychiatry,2013

2. Pediatric neurological syndromes and inborn errors of purine metabolism;Camici;Neurochemistry International,2010

3. Hereditary spastic paraplegia: Clinical and genetic hallmarks;de Souza;Cerebellum,2017

4. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1;Dursun;Neurogenetics,2009

5. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): Case report of a new member of thin corpus callosum SPG-Subgroup;Elsaid;BMC Medical Genetics,2017

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