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A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
Siddiqi, Saima; Foo, Jia Nee; Vu, Anthony; Azim, Saad; Silver, David L; Mansoor, Atika; Tay, Stacey Kiat Hong; Abbasi, Sumiya; Hashmi, Asraf Hussain; Janjua, Jamal; Khalid, Sumbal; Tai, E Shyong; Yeo, Gene W; Khor, Chiea Chuen.
Affiliation
  • Siddiqi S; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Foo JN; Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Vu A; Department of Cellular and Molecular Medicine and Institute for Genomic Medicine, University of California at San Diego, La Jolla, California, United States of America.
  • Azim S; Ali Medical Center, F8/1, Islamabad, Pakistan.
  • Silver DL; Signature Research Program in Cardiovascular & Metabolic Disorders, Duke-NUS Graduate Medical School, Singapore, Singapore.
  • Mansoor A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Tay SK; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Abbasi S; International Islamic University, Islamabad, Pakistan.
  • Hashmi AH; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Janjua J; College of Physicians and Surgeons (CPSP), Islamabad, Pakistan.
  • Khalid S; International Islamic University, Islamabad, Pakistan.
  • Tai ES; Signature Research Program in Cardiovascular & Metabolic Disorders, Duke-NUS Graduate Medical School, Singapore, Singapore; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Hospital System, Singapore, Singapore; Saw Swee Hock School o
  • Yeo GW; Department of Cellular and Molecular Medicine and Institute for Genomic Medicine, University of California at San Diego, La Jolla, California, United States of America; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Khor CC; Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
PLoS One ; 9(12): e113258, 2014.
Article in En | MEDLINE | ID: mdl-25474699
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Guanine Nucleotide Exchange Factors / RNA Splice Sites / Amyotrophic Lateral Sclerosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2014 Type: Article Affiliation country: Pakistan
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Guanine Nucleotide Exchange Factors / RNA Splice Sites / Amyotrophic Lateral Sclerosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2014 Type: Article Affiliation country: Pakistan