point mutation in the CSF2RB gene in pulmonary alveolar proteinosis (PAP) (MIM.265120)
References
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Dirksen, U.; Nishinakamura, R.; Groneck, P.; Hattenhorst, U.; Nogee, L.; Murray, R.; Burdach, S. : Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J. Clin. Invest. 100: 2211-2217, 1997. PubMed ID : #9410898#