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Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Hamvas A, et al. J Pediatr. 2009 Dec;155(6):854-859.e1. doi: 10.1016/j.jpeds.2009.06.006. Epub 2009 Aug 3. J Pediatr. 2009. PMID: 19647838 Free PMC article.
Ultrastructure of lung in surfactant protein B deficiency.
deMello DE, Heyman S, Phelps DS, Hamvas A, Nogee L, Cole S, Colten HR. deMello DE, et al. Among authors: hamvas a. Am J Respir Cell Mol Biol. 1994 Aug;11(2):230-9. doi: 10.1165/ajrcmb.11.2.8049084. Am J Respir Cell Mol Biol. 1994. PMID: 8049084
Pulmonary surfactant metabolism in infants lacking surfactant protein B.
Beers MF, Hamvas A, Moxley MA, Gonzales LW, Guttentag SH, Solarin KO, Longmore WJ, Nogee LM, Ballard PL. Beers MF, et al. Among authors: hamvas a. Am J Respir Cell Mol Biol. 2000 Mar;22(3):380-91. doi: 10.1165/ajrcmb.22.3.3645. Am J Respir Cell Mol Biol. 2000. PMID: 10696076
185 results