Article
Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot.
Journal of molecular medicine (Berlin, Germany) - 1 Jun 2001
Chung M Y, Lu J H, Weng Y Y, Hwang B
Abstract excerpt
Congenital defects in human chromosome 22q11 deletion syndromes are associated with the 3rd and 4th pharyngeal pouch during fetal development. In the cardiovascular system, these disorders are usually apparent as conotruncal heart defects and aortic arch anomalies. UFD1L, a gene that is downregulated in dHAND-deficient mice, expressed in the mouse embryo at the branchial arch and mapped to human chromosome 22q11,...
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