Quintana, Anita M <br/><br/>
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.  [electronic resource] 

 -  Human molecular genetics  08 2017 
 - 2838-2849 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddx157  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Base Sequence<br/>Branchial Region--metabolism<br/>Cell Differentiation<br/>Child<br/>Craniofacial Abnormalities--genetics<br/>Fibroblasts<br/>Gene Expression Regulation--genetics<br/>Host Cell Factor C1--chemistry<br/>Humans<br/>Mutation<br/>Primary Cell Culture<br/>Repressor Proteins--genetics<br/>Transcription, Genetic<br/>Vitamin B 12--genetics<br/>Zebrafish--genetics