Significant contribution of intragenic deletions to ARID1B mutation spectrum
نویسندگان
چکیده
منابع مشابه
A knowledge-based approach to predict intragenic deletions or duplications
MOTIVATION Despite recent improvements in high-throughput or classic molecular biology approaches it is still challenging to identify intermediate resolution genomic variations (50 bp to 50 kb). Although array-based technologies can be used to detect copy number variations in the human genome they are biased to detect only the largest such deletions or duplications. Several studies have identif...
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PURPOSE To present the results of molecular analysis of the PAX6 gene in a group of patients with congenital aniridia from Mexican mestizo origin, a previously unstudied ethnic group. METHODS Five unrelated affected probands, four pertaining to familial cases and one sporadic, were studied at the Institute of Ophthalmology "Conde de Valenciana" in Mexico City. All patients underwent full opht...
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In the absence of assumptions pertaining to the organization and function of chromomeric DNA, the cytogenetic analysis of intragenic deletions that start at Notch and spread to the right or left of the locus suggests that the recombinational gene is bilaterally associated with salivary band 3C7. Either there are two genes resolved as a single cistron, or one must seek an alternative interpretat...
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this thesis aims to adduce an unmitigated and comprehensive explication concerning the relationship of three significant elements of fiction: setting, chracter and theme. my research is basically placed on two outstanding novels of the 19th century: emily brontes wuthering heights and thomas hardys return of the native. my endeavour lies in studying the correlation among the three above-mention...
15 صفحه اولHeterozygous Polg mutation causes motor dysfunction due to mtDNA deletions
OBJECTIVE Mutations in nuclear-encoded mitochondrial DNA (mtDNA) polymerase (POLG) are known to cause autosomal dominant chronic progressive external ophthalmoplegia (adCPEO) with accumulation of multiple mtDNA deletions in muscles. However, no animal model with a heterozygous Polg mutation representing mtDNA impairment and symptoms of CPEO has been established. To understand the pathogenic mec...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2019
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-019-0546-6