Origin of the prevalent SFTPB indel g.15
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Mohammed Tredano; David N. Cooper; Manfred Stuhrmann; John Christodoulou; Nadia
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Article
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2006
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John Wiley and Sons
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English
β 285 KB
## Abstract The __SFTPB__ gene indel g.1549Cβ>βGAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear, however, whether its prevalence is due to recurrent mutation or a founder effect. The underlying mutational mechanism was the