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Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Semerci, C Nur; Kalay, Ersan; Yildirim, Cem; Dinçer, Tuba; Olmez, Akgün; Toraman, Bayram; Koçyigit, Ali; Bulgu, Yunus; Okur, Volkan; Satiroglu-Tufan, Lale; Akarsu, Nurten A.
Afiliação
  • Semerci CN; Department of Medical Genetics, School of Medicine, Pamukkale University, Denizli, Turkey.
  • Kalay E; Department of Medical Biology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.
  • Yildirim C; Department of Ophthalmology, School of Medicine, Pamukkale University, Denizli, Turkey.
  • Dinçer T; Department of Medical Biology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.
  • Olmez A; Department of Pediatric Neurology, Denizli State Hospital of Ministry of Health, Denizli, Turkey.
  • Toraman B; Department of Medical Biology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.
  • Koçyigit A; Department of Radiology, School of Medicine, Pamukkale University, Denizli, Turkey.
  • Bulgu Y; Department of Ophthalmology, State Hospital, Suhut-Afyonkarahisar, Afyon, Turkey.
  • Okur V; Department of Medical Genetics, School of Medicine, Pamukkale University, Denizli, Turkey.
  • Satiroglu-Tufan L; Department of Medical Genetics, School of Medicine, Pamukkale University, Denizli, Turkey.
  • Akarsu NA; Department of Medical Genetics, Gene Mapping Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey.
Br J Ophthalmol ; 98(6): 832-40, 2014 Jun.
Article em En | MEDLINE | ID: mdl-24568872
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anoftalmia / Microftalmia / Mutação de Sentido Incorreto / Sítios de Splice de RNA / Aldeído Oxirredutases Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anoftalmia / Microftalmia / Mutação de Sentido Incorreto / Sítios de Splice de RNA / Aldeído Oxirredutases Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article