Brooks, Alice S <br/><br/>
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.  [electronic resource] 

 -  American journal of human genetics  Jul 2005 
 - 120-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/431244  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple<br/>Base Sequence<br/>Chromosomes, Human, Pair 10<br/>Codon, Nonsense<br/>Consanguinity<br/>Enteric Nervous System--abnormalities<br/>Female<br/>Hirschsprung Disease--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Nerve Tissue Proteins<br/>Nervous System Malformations--genetics<br/>Pedigree<br/>Syndrome