Goubau, Christophe <br/><br/>
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  Jan 2013 
 - 55-63 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/gim.2012.90  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Substitution<br/>Aquaporin 3--genetics<br/>Aquaporins--genetics<br/>Blood Platelet Disorders--genetics<br/>Blood Platelets--metabolism<br/>Child<br/>Child, Preschool<br/>Codon<br/>Female<br/>Glycerol--blood<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Protein Transport<br/>Young Adult