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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi, T; Nanda, A; Aristodemou, S; McMillan, J R; Lee, J; Akiyama, M; Al-Ajmi, H; Simpson, M A; McGrath, J A.
Afiliación
  • Takeichi T; St John's Institute of Dermatology, King's College London, Guy's Hospital, Great Maze Pond, London, SE1 9RT, U.K.
  • Nanda A; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Aristodemou S; As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
  • McMillan JR; The National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, U.K.
  • Lee J; The National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, U.K.
  • Akiyama M; St John's Institute of Dermatology, King's College London, Guy's Hospital, Great Maze Pond, London, SE1 9RT, U.K.
  • Al-Ajmi H; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Simpson MA; As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
  • McGrath JA; Department of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, SE1 9RT, U.K.
Br J Dermatol ; 172(5): 1407-11, 2015.
Article en En | MEDLINE | ID: mdl-25308318

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Serina Endopeptidasas / Trastornos de los Cromosomas / Ictiosis / Manosiltransferasas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Br J Dermatol Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Serina Endopeptidasas / Trastornos de los Cromosomas / Ictiosis / Manosiltransferasas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Br J Dermatol Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido