Article
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
American journal of human genetics - 1 May 2000
Hagan D M, Ross A J, Strachan T, Lynch S A, Ruiz-Perez V, Wang Y M, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter R M, Edwards Y, Morrison K, Barrow M, Cordier-Alex M P, Correia P, Galvin-Parton P A, Gaskill S, Gaskin K J, Garcia-Minaur S, Gereige R, Hayward R, Homfray T
Abstract excerpt
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein containing a homeodomain preceded by a very highly conserved 82-amino acid domain of unknown function; the remainder of the protein is not well conserved. Here we report an extensive mutation survey that has identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.