Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.

Hijikata, Atsushi; Yura, Kei; Ohara, Osamu; Go, Mitiko

Hijikata, Atsushi; Yura, Kei; Ohara, Osamu; Go, Mitiko.

Afiliação

Hijikata A; Nagahama Institute of Bio-Science and Technology, 1266 Tamura-cho, Nagahama, Shiga 526-0829, Japan.
Yura K; Graduate School of Humanities and Sciences, Ochanomizu University, 2-1-1 Otsuka, Bunkyo-ku, Tokyo 112-8610, Japan.
Ohara O; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan ; Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan.
Go M; Nagahama Institute of Bio-Science and Technology, 1266 Tamura-cho, Nagahama, Shiga 526-0829, Japan ; Research Organization of Information and Systems, 4-3-13, Toranomon, Minatoku, Tokyo 105-0001, Japan.

Meta Gene ; 4: 92-106, 2015 Jun.

Article em En | MEDLINE | ID: mdl-25941633

Palavras-chave

Disease-causing mutations; Homology modeling; Immunodeficiency; Intrinsically unstructured region; TAZ gene; X-linked recessive disease

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Meta Gene Ano de publicação: 2015 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google