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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
Erzurumluoglu, A Mesut; Alsaadi, Muslim M; Rodriguez, Santiago; Alotaibi, Tahani S; Guthrie, Philip A I; Lewis, Sian; Ginwalla, Aasiya; Gaunt, Tom R; Alharbi, Khalid K; Alsaif, Fahad M; Alsaadi, Basma M; Day, Ian N M.
Afiliación
  • Erzurumluoglu AM; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
  • Alsaadi MM; College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia.
  • Rodriguez S; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
  • Alotaibi TS; College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia.
  • Guthrie PA; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
  • Lewis S; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
  • Ginwalla A; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
  • Gaunt TR; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom; MRC Integrative Epidemiology Unit (IEU), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United
  • Alharbi KK; Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh, 11433, Kingdom of Saudi Arabia.
  • Alsaif FM; Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia.
  • Alsaadi BM; Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia.
  • Day IN; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
PLoS One ; 10(3): e0121351, 2015.
Article en En | MEDLINE | ID: mdl-25799584
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Papillon-Lefevre / Análisis de Secuencia de ADN / Mutación Missense / Catepsina C Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Papillon-Lefevre / Análisis de Secuencia de ADN / Mutación Missense / Catepsina C Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos