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TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Maasz, Anita; Hadzsiev, Kinga; Ripszam, Reka; Zsigmond, Anna; Maka, Erika; Knezy, Krisztina; Lesch, Balazs; Nemeth, Adrienn; Bene, Judit; Galik, Bence; Gyenesei, Attila; Melegh, Bela.
Afiliação
  • Maasz A; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary. Electronic address: maasz.anita@pte.hu.
  • Hadzsiev K; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary.
  • Ripszam R; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary.
  • Zsigmond A; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary.
  • Maka E; Department of Ophthalmology, Semmelweis University, Budapest, H-1085, Hungary.
  • Knezy K; Department of Ophthalmology, Semmelweis University, Budapest, H-1085, Hungary.
  • Lesch B; Department of Ophthalmology, Semmelweis University, Budapest, H-1085, Hungary.
  • Nemeth A; Department of Otorhinolaryngology, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary.
  • Bene J; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary.
  • Galik B; Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, University of Pecs, Pecs, H-7624, Hungary.
  • Gyenesei A; Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, University of Pecs, Pecs, H-7624, Hungary.
  • Melegh B; Department of Medical Genetics, Clinical Centre and Medical School, University of Pecs, Pecs, H-7624, Hungary; Szentagothai Research Centre, Clinical Genetics and Genomics Research Group, University of Pecs, Pecs, H-7624, Hungary.
Eur J Med Genet ; 65(4): 104471, 2022 Apr.
Article em En | MEDLINE | ID: mdl-35240325
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Surdez / Amaurose Congênita de Leber Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Surdez / Amaurose Congênita de Leber Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de publicação: Holanda