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A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall, Márton; Luczay, Andrea; Koncz, Klára; Hadzsiev, Kinga; Erhardt, Éva; Szilágyi, Ágnes; Doleschall, Zoltán; Németh, Krisztina; Török, Dóra; Prohászka, Zoltán; Gereben, Balázs; Fekete, György; Gláz, Edit; Igaz, Péter; Korbonits, Márta; Tóth, Miklós; Rácz, Károly; Patócs, Attila.
Afiliação
  • Doleschall M; Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
  • Luczay A; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Koncz K; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Hadzsiev K; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Erhardt É; 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Szilágyi Á; Department of Medical Genetics, University of Pecs, Pecs, Hungary.
  • Doleschall Z; Department of Pediatrics, University of Pecs, Pecs, Hungary.
  • Németh K; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Török D; Department of Pathogenetics, National Institute of Oncology, Budapest, Hungary.
  • Prohászka Z; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Gereben B; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Fekete G; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Gláz E; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary.
  • Igaz P; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Korbonits M; 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Tóth M; 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Rácz K; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Patócs A; 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
Eur J Hum Genet ; 25(6): 702-710, 2017 06.
Article em En | MEDLINE | ID: mdl-28401898

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esteroide 21-Hidroxilase / Hiperplasia Suprarrenal Congênita / Variações do Número de Cópias de DNA Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Hungria

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esteroide 21-Hidroxilase / Hiperplasia Suprarrenal Congênita / Variações do Número de Cópias de DNA Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Hungria