Similar in-frame exon skipping mutations have been found in other developmental disorders, such as anophthalmia/microphthalmia [14], cholesteryl ester storage disease [15] and dystrophic epidermolysis bullosa [16]. Bioinformatic analysis predicted that the mutated UBE3B protein lacks 40 amino acids, ...
EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients. Int. J. Cancer 2013, 132, 449-458.Jou YS,Lo YL,Hsiao CF,et al.Association of an EGFR intron1SNP with never-smoking female lung adenocarcinoma patients. Lung Cancer . ...
Toh Z Y;Thandar A M;Pinniger G;.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype:Guidance for Exon Skipping Strategies.PLoS One.2016.620-Toh, Z.Y.; Thandar Aung-Htut, M.; Pinniger, G.; Adams, A.M.; Krishnaswarmy, S.; Wong, B.L.; Fletcher, S.; Wilton, S...
Finally, this study demonstrates that any variant leading to expression of only BRCA2 delta-exon 3 will be associated with an increased risk of breast and ovarian cancer. 展开 关键词: BRCA2 exon3, PALB2, variants, RNA splicing defects, splice donor site ...
ntur.lib.ntu.edu.tw|基于1 个网页 3. 框内缺失 ...变,而外显子跳远(exon skipping)引起框内缺失(in-frame deletions)是变异的主要特点,且E-Cad基因变异主要见于弥漫 …www.wjgnet.com|基于1 个网页© 2025 Microsoft 隐私声明和 Cookie 法律声明 广告 帮助 反馈...
where the two most prevalent types of mutations are in-frame deletions in exon 19 (i.e., E19del) and an L858R point mutation in exon 21; the latter mutations account for less than 85% of all mutations1,33,34. Because of the heterogeneous nature of intra-tumor development, it was nece...
A 3-basepair in-frame deletion (delta Leu999) in exon 17 of the insulin receptor gene in a family with insulin resistance Awata T, Matsumoto C, Momomura Y, et al: A 3-basepair in-frame deletion (~Leu 999)in exon 17 of the insulin receptor gene in a family with insulin resistance...
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family Jing Miao Fei-fei Su Xue-fan Yu BMC Neurology (2018) Myofibrillar myopathy in the genomic context Jakub Piotr Fichna Aleksandra...
A 3-bp in-frame duplication within Exon 1 (c.75_77dupTCT), resulting in the duplication of leucine 26 (p.Leu26dup), was identified in the two samples.We report the first RhD variant associated with a 3-bp in-frame duplication in the RHD gene, predicted to be located within the ...
This deletion results in an in-frame loss of exon 7 at transcription level (c.781_891del; r.487_597del), which is predicted to abolish 37 amino acids from the highly conserved N-terminal BAR domain of OPHN1. cDNA expression analysis demonstrated that the mutant OPHN1 transcript is stable...