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Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is an assay to determine copy number of SMN1 exon 7 that utilizes multiplex quantitative polymerase chain reaction (PCR) with DraI(More)
R isk assessment is an essential component of genetic counselling and testing, and Bayesian analysis plays a central role in complex risk calculations. Prenatal risk assessment for autosomal recessive diseases can be particularly complex when, for example, only one mutation is detectable in the fetus, and when mutation detection rates and disease allele(More)
Temporal variations of precipitating clouds in equatorial Indonesia have been studied based on observations with 1357.5 MHz boundary layer radars at Serpong (6.4 S, 106.7 E) near Jakarta and Bukittinggi (0.2 S, 100.3 E) in West Sumatera. We have classified precipitating clouds into four types: stratiform, mixed stratiform-convective, deep convective, and(More)
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