To our knowledge, this is the first case of an intragenic exon- level deletion in the DHCR7,23 HADHB, and MOCS2 genes. There have been previous reports of exon-level deletions in other genes reported here, including GAA, PAH, PCCA, and DCLRE1C. A large deletion of exon 18 has been...
deletionduplicationexonMendelianMendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian disorders is unknown.We designed an array comparative genomic hybridization (CGH) ...
The aims of this study were : 1-to analyze the GH receptor (GHR) genotype in terms of exon 3 deletion GHR (d3-GHR) in adults with GHD; 2-to assess the effects of d3-GHR on initial IGF-I levels; 3-to evaluate whether d3-GHR and/or initial IGF-I levels were associated with ...
Low-level expression of a JAK2 splice variant with exon 14 deletion is common in patients with chronic myeloproliferative neoplasms.Zhang, ZMa, WLee, T SZhang, XWang, XYeh, C HAlbitar, M
One of the proposed models to explain the molecular basis of FSHD is that D4Z4 deletion might induce abnormal transcriptional activity in cis and in trans. To get at whether there is abnormal transcriptional activity in FSHD we are using the Gene Exon 1.0 ST Arrays (Affymetrix), which have...