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Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
Cross, Esther; Duncan-Flavell, Philippa J; Howarth, Rachel J; Crooks, Richard O; Thomas, N Simon; Bunyan, David J.
Afiliação
  • Cross E; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.
  • Duncan-Flavell PJ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.
  • Howarth RJ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.
  • Crooks RO; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.
  • Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK; Faculty of Medicine, University of Southampton, Southampton, Hampshire, SO16 6YD, UK.
  • Bunyan DJ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK; Faculty of Medicine, University of Southampton, Southampton, Hampshire, SO16 6YD, UK. Electronic address: dbunyan@nhs.net.
Eur J Med Genet ; 63(7): 103940, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32360764
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Genes Homeobox / Fator de Transcrição PAX6 Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Genes Homeobox / Fator de Transcrição PAX6 Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Holanda