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

Takeichi, T; Nanda, A; Aristodemou, S; McMillan, J R; Lee, J; Akiyama, M; Al-Ajmi, H; Simpson, M A; McGrath, J A.

Afiliação

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 em En | MEDLINE | ID: mdl-25308318

Assuntos

Transtornos Cromossômicos/diagnóstico; Ictiose/diagnóstico; Manosiltransferases/genética; Mutação/genética; Serina Endopeptidases/genética; Pré-Escolar; Transtornos Cromossômicos/genética; Consanguinidade; Exoma; Feminino; Estudo de Associação Genômica Ampla/métodos; Heterozigoto; Homozigoto; Humanos; Ictiose/genética; Sítios de Splice de RNA/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina Endopeptidases / Transtornos Cromossômicos / Ictiose / Manosiltransferases / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Br J Dermatol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido

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