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

Meta Gene

Volumn 4, Issue , 2015, Pages 92-106

  Hijikata, Atsushi ^a   Yura, Kei ^b   Ohara, Osamu ^c,d   Go, Mitiko ^a,e  

^a NAGAHAMA INSTITUTE OF BIO SCIENCE AND TECHNOLOGY   (Japan)

^b OCHANOMIZU UNIVERSITY   (Japan)

^c Institute of Physical and Chemical Research   (Japan)

^d KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^e NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

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

Indexed keywords

DNA HOMOLOG; GLYCEROL 3 PHOSPHATE ACYLTRANSFERASE; MEMBRANE PROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ALTERNATIVE RNA SPLICING; ARTICLE; BARTH SYNDROME; EXON; GENE; GENE MUTATION; HUMAN; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; TAFAZZIN GENE;

PRIMATES;

EID: 84929377608     PISSN: 22145400     EISSN: 22145400     Source Type: Journal    
DOI: 10.1016/j.mgene.2015.04.001     Document Type: Article

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