Zobrazeno 1 - 5
of 5
pro vyhledávání: '"G O, Bock"'
Publikováno v:
Musclenerve. 21(11)
Peripheral neuropathy is an uncommon cause of generalized hypotonia and weakness in infancy. It occurs as a part of the clinical syndrome in some neurodegenerative disorders of infancy, but seldom causes respiratory failure or swallowing difficulties
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17a2840d0b731745930de4fa70f81fc9
https://pubmed.ncbi.nlm.nih.gov/9771672
https://pubmed.ncbi.nlm.nih.gov/9771672
Publikováno v:
Journal of Biological Chemistry. 259:3160-3166
In the human genome there is one expressed gene for argininosuccinate synthetase and 14 pseudogenes. A cDNA coding for human argininosuccinate synthetase was used to screen a human genomic library. Twenty-five unique genomic clones were isolated and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::199ad91587a62a3380d20a9d1b9c4f51
https://doi.org/10.1016/s0021-9258(17)43275-3
https://doi.org/10.1016/s0021-9258(17)43275-3
Publikováno v:
Molecular and Cellular Biology. 4:1978-1984
The human genome contains one expressed argininosuccinate synthetase gene and ca. 14 pseudogenes that are dispersed to at least 11 human chromosomes. Eleven clones isolated from a human genomic DNA library were characterized extensively by restrictio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5849f1254efea6291a6219b2f7dd575b
https://doi.org/10.1128/mcb.4.10.1978-1984.1984
https://doi.org/10.1128/mcb.4.10.1978-1984.1984
Publikováno v:
Advances in Human Genetics 15 ISBN: 9781461583585
Argininosuccinate synthetase is an enzyme which functions in the urea cycle in ureotelic animals, and genetic deficiency of the enzyme in man causes an inborn error of metabolism, citrullinemia. The purpose of this chapter is to summarize recent deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f618c8b6edb8ce4b290dadc89af1a42
https://doi.org/10.1007/978-1-4615-8356-1_3
https://doi.org/10.1007/978-1-4615-8356-1_3
Publikováno v:
Pediatric Research. 15:559-559
In order to study mRNA and DNA alterations in citrullinemia and to explore the basis of metabolite regulation and enzyme overproduction in cultured cells, we have isolated cloned cDNA for ASS. The human cell line RPMI-2650 (wild type, wt) was used to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::780ce7ca84eda86f24a4a084ee9c6253
https://doi.org/10.1203/00006450-198104001-00725
https://doi.org/10.1203/00006450-198104001-00725