CPS1


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AcronymDefinition
CPS1Carbamoyl Phosphate Synthetase 1
References in periodicals archive ?
53 Table 5: Urea Cycle SNPs Gene Name RS Number Ratio Between Groups CPS1 rs15009821 2.
ANZ Capital's obligation to purchase the CPS1 Securities is
As formulacoes CPS1,5 e CPS3,0 foram utilizadas na serie de testes de diferenca.
A separacao espacial das quatro formulacoes sugeriu a formacao de dois grupos distintos, um grupo formado pelas amostras controle e CPS1,5 e outro formado por CPS3,0 e CPS4,5 (Figura 1a).
Dessa forma, em relacao a textura, as amostras CPS1,5 e CPS3,0 foram as mais aceitas pelos consumidores.
Furthermore, for very large genes such as CPS1 (> 120 kb encompassing 38 exons), being able to conduct a comprehensive analysis at the genomic DNA level without the need for numerous PCR amplifications of single exons could greatly simplify the search for disease-causing mutations.
With inherited UCDs as a model, we investigated a 199-kb region that encompasses the complete genomic sequences of OTC, NAGS, and CPS1.
We did not detect CPS1 deletions in the patient of case 4, who also presented with hyperammonemia; but instead we found a deletion of the OTC gene.
For example, the patient in case 4 was originally suspected of having a CPS1 deficiency, but a deletion involving the OTC gene was discovered.
21) detected differences in melting profiles between small PCR amplicons of 46 or 55 bp, the former having a internal 9-bp deletion, derived from a CPS1 gene cDNA.
CPS1 deficiency is an autosomal recessive disorder caused by the deficient activity of CPS1, affecting the first enzyme step in the urea cycle.
For fluorescence PCR analysis of the 9-bp deletion, we prepared two PCR primers (9Del-AS and 9Del-AS; Table 1), and three templates; two were the reverse transcription products of the total RNA isolated from the liver of a patient with CPS1 deficiency and a patient with ornithine transcarbamoylase deficiency (as a control); a plasmid containing the homozygous 9-bp deletion mutation was used.