TAZbase: Barth syndrome

Version 1.2 last updated 16 June, 2011 contains 87 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the TAZbase :

Defects in tafazzin (TAZ) are the cause of Barth syndrome (BTHS). BTHS is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. Presentation can be slowly progressive or sudden.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: TAZbase