90
edits
Line 105: | Line 105: | ||
[[Image:Cystic Fibrosis.jpg]]<br> | [[Image:Cystic Fibrosis.jpg]]<br> | ||
Large deletions in cystic fibrosis alleles have been estimated to constitute 1–2% pathogenic alleles, but the occurrence could be much higher in classical cystic fibrosis patients with one mutation detectable by the routine screening/sequencing work-up. The rearranged region is flanked by a pair of perfectly inverted repeats of 32 bp. The start and end of the 32 bp repeats (blue arrows) are denoted by vertical dashed lines. The nucleotide sequence alignment shows that I and II (reverse-complemented) are highly homologous. | Large deletions in cystic fibrosis alleles have been estimated to constitute 1–2% pathogenic alleles, but the occurrence could be much higher in classical cystic fibrosis patients with one mutation detectable by the routine screening/sequencing work-up. The rearranged region is flanked by a pair of perfectly inverted repeats of 32 bp. The start and end of the 32 bp repeats (blue arrows) are denoted by vertical dashed lines. The nucleotide sequence alignment shows that I and II (reverse-complemented) are highly homologous. | ||
http://www.sciencedirect.com/science/article/pii/S1569199312001737 | *http://www.sciencedirect.com/science/article/pii/S1569199312001737 | ||
http://www.bmb.msu.edu/faculty/hong.html | *http://www.bmb.msu.edu/faculty/hong.html | ||
<!-- ##### DO NOT edit below this line unless you know what you are doing. ##### --> | <!-- ##### DO NOT edit below this line unless you know what you are doing. ##### --> | ||
|} | |} |
edits