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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni, Sharon; Barwick, Katy E S; Straussberg, Rachel; Harlalka, Gaurav V; Nevo, Yoram; Chioza, Barry A; McEntagart, Meriel M; Mimouni-Bloch, Aviva; Weedon, Michael; Crosby, Andrew H.
Afiliação
  • Aharoni S; Department of Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Barwick KE; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.
  • Straussberg R; Department of Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Harlalka GV; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.
  • Nevo Y; Department of Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Chioza BA; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.
  • McEntagart MM; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Mimouni-Bloch A; The Pediatric Neurology and Developmental Unit, Loewenstein Rehabilitation Hospital, Raanana, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Weedon M; Medical Research, Diabetes group, RILD Wellcome Wolfson Centre (Level 3), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK.
  • Crosby AH; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK. a.h.crosby@exeter.ac.uk.
BMC Med Genet ; 17(1): 82, 2016 Nov 16.
Article em En | MEDLINE | ID: mdl-27852232
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Consanguinidade / Mutação de Sentido Incorreto / Proteínas do Citoesqueleto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Child, preschool / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Israel País de publicação: Reino Unido
Texto completo
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Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Consanguinidade / Mutação de Sentido Incorreto / Proteínas do Citoesqueleto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Child, preschool / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Israel País de publicação: Reino Unido