Lin, Z <br/><br/>
An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.  [electronic resource] 

 -  Molecular genetics and metabolism  May 1998 
 - 25-35 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1006/mgme.1998.2702  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Codon, Terminator<br/>Exons--genetics<br/>Female<br/>Frameshift Mutation<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Molecular Sequence Data<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Polymorphism, Genetic<br/>Proteolipids--genetics<br/>Pulmonary Alveolar Proteinosis--congenital<br/>Pulmonary Surfactants--genetics<br/>Sequence Analysis, DNA<br/>Sequence Deletion