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Intronic changes (excluding deletions and/or insertions, which are considered above) account for 24 of the 277 distinct gene alterations (9%); 22 of these gene alterations affect one of the −1, −2, +1, or +2 nucleotides.
We produced a neighbour-joining tree of all alleles, including published DRB and DQB alleles from rat, mouse and human (Maximum Composite Likelihood model for nucleotides, 10000 iterations, starting seed: 90572, excluding deletions and allowing for heterogeneous patterns among lineages).
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We excluded deletions, insertions, and sites with more than 2 alleles from the analysis.
MLPA analysis was carried out to detect or exclude deletions and duplications of the genes PAX3 and MITF.
The library contains the identical gene deletion alleles as the standard yeast knockout collection (Winzeler et al. 1999), excluding gene deletions that result in auxotrophies.
The final stage of the analysis encompasses merging contiguous hits and excluding putative deletions when the corresponding coverage per nucleotide position is greater than zero.
Molecular analysis using fluorescence in situ hybridization (FISH) with the N25 and TUPLE 1 probes in the DGS/VCFS region at 22q11.2 revealed disomy for this locus, excluding any deletions in this particular region.
Within the 3 Lp-psGI sequences the ranges of sequence conservation within 'exonic' and 'intronic' regions were 94 98% and 95 97%, respectively (Table 2). 1 Sequence similarity excluding base deletions and insertions (reflecting base substitutions).
By excluding the deletion of the individual in their study without behavioral problems, Van Buggenhout et al. [11] proposed a 0.5-Mb common deletion region at 2q32.3 proximal to SATB2 for behavioral problems.
Karyotyping was negative excluding a deletion longer than 20 Mbp.
A series of 214 cases with familial breast cancer were analysed using this approach; 88/214 were heterozygous for the promoter polymorphism, thereby excluding a deletion in this region.
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