Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.

deMello, D E

Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. [electronic resource] - The Journal of pediatrics Jul 1994 - 43-50 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0022-3476

10.1016/s0022-3476(94)70119-9 doi


Female
Frameshift Mutation
Gene Expression
Genotype
Humans
Infant
Infant, Newborn
Lung--chemistry
Male
Phenotype
Proteolipids--adverse effects
Pulmonary Alveolar Proteinosis--congenital
Pulmonary Surfactant-Associated Proteins
Pulmonary Surfactants--adverse effects