Molecular confirmation retrospectively of a diagnosis of surfactant protein B deficiency.
Gattas
M
M
Harvey
P
P
Adsett
D
D
D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011649:Pulmonary Alveolar Proteinosis / Q000151:congenital* / Q000235:genetics*; D011663:Pulmonary Surfactants / Q000235:genetics* / Q000378:metabolism
D011663:Pulmonary Surfactants