Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
Ferri, Lorenzo
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. [electronic resource] - European journal of human genetics : EJHG Dec 2015 - 1708-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2015.50 doi
Acyltransferases
Adult
Barth Syndrome--diagnosis
Child
Chromosome Breakpoints
Female
Gene Deletion
Heterozygote
Humans
Infant
Male
Mutation
Siblings
Transcription Factors--genetics
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. [electronic resource] - European journal of human genetics : EJHG Dec 2015 - 1708-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2015.50 doi
Acyltransferases
Adult
Barth Syndrome--diagnosis
Child
Chromosome Breakpoints
Female
Gene Deletion
Heterozygote
Humans
Infant
Male
Mutation
Siblings
Transcription Factors--genetics