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Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Krause, Amanda; Mitchell, Claire; Essop, Fahmida; Tager, Susan; Temlett, James; Stevanin, Giovanni; Ross, Christopher; Rudnicki, Dobrila; Margolis, Russell.
Afiliação
  • Krause A; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.
  • Mitchell C; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Essop F; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.
  • Tager S; Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa.
  • Temlett J; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Stevanin G; Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa.
  • Ross C; Donald Gordon Medical Centre, Johannesburg, South Africa.
  • Rudnicki D; Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa.
  • Margolis R; Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia.
Am J Med Genet B Neuropsychiatr Genet ; 168(7): 573-85, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26079385
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coreia / Transtornos Heredodegenerativos do Sistema Nervoso / Demência / Proteínas de Membrana Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coreia / Transtornos Heredodegenerativos do Sistema Nervoso / Demência / Proteínas de Membrana Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Ano de publicação: 2015 Tipo de documento: Article