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Dr. Nadia Mohamed Ali Saleh

Assistant Professor - Head of Nursing ِAdminstration Department , Faculty of Nursing - Trainer at the Center for Development of faculty members and leaders and Measurement and Evaluation Center at sohag university, Egypt

Faculty of Nursing

Address: Egypt, Sohag, Sohag University, Faculity of Nursing , Adminstration Department

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Publications Which contain the keyword: aberrant splicing

A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene

2018-09-16 14:20:15 Keywords exon skipping, aberrant splicing, polypyrimidine tract, splice acceptor site, T2 deficiency, mitochondrial acetoacetyl‑CoA,
A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene
Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site of intron 2, and exon 3 skipping was identified by cDNA analysis using cycloheximide. We ... Read more

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site

2018-09-16 14:43:21 Keywords aberrant splicing, exonic splice enhancer, minigene, Beta-ketothiolase deficiency, thiolase deficiency, acetyl-CoA acetyltransferase 1,
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site
Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene. A German T2‑deficient patient that developed a severe ketoacidotic episode at the age of 11 months, was revealed to be a compound heterozygote of a previously reported null mutation, c.472A>G (p.N158D) and a novel mutation, ... Read more

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