Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers
抄録
<jats:title>Abstract</jats:title><jats:p>Deficiency of the hepatic enzyme carbamoyl‐phosphate synthase I (CPSI), results in lethal or near‐lethal hyperammonaemia. As part of our work on CPSI deficiency we have explored the development of markers for prenatal diagnosis, and the determination of molecular defects resulting in CPSI deficiency. We have determined a set of highly informative microsatellite markers flanking the CPSI gene. We have found 14 mutations in individuals with CPSI deficiency. During our mutation studies, we have made extensive use of cell lines not normally expressing CPSI through amplification of ‘illegitimate’ transcripts. We summarize these findings and review our current understanding of this important enzyme.</jats:p>
収録刊行物
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- Journal of Inherited Metabolic Disease
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Journal of Inherited Metabolic Disease 21 (S1), 30-39, 1998-06
Wiley
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詳細情報 詳細情報について
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- CRID
- 1363388844441004160
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- NII論文ID
- 30012217785
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- ISSN
- 15732665
- 01418955
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- データソース種別
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