Gower, W Adam <br/><br/>
Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.  [electronic resource] 

 -  The Journal of pediatrics  Jul 2010 
 - 62-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1097-6833 
<br/><br/><label>Standard No.: </label>10.1016/j.jpeds.2010.01.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Binding Cassette Transporters--genetics<br/>Autopsy<br/>Child<br/>Chromosome Segregation<br/>Exons<br/>Family<br/>Fatal Outcome<br/>Female<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Humans<br/>Lung--metabolism<br/>Lung Diseases--complications<br/>Male<br/>Microscopy, Electron<br/>Mutation<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Respiratory Insufficiency--etiology<br/>Siblings