Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers
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...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1998-06, Vol.21 (S1), p.30-39 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Summar, M. L. |
| description | 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. |
| doi_str_mv | 10.1023/A:1005349306311 |
| format | Article |
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L.</creator><creatorcontrib>Summar, M. L.</creatorcontrib><description>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. 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L.</creatorcontrib><title>Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>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.</description><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Amino Acid Metabolism, Inborn Errors - genetics</subject><subject>Aminoacid disorders</subject><subject>Ammonia - blood</subject><subject>Biological and medical sciences</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - chemistry</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - deficiency</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - genetics</subject><subject>Carbamoyl-Phosphate Synthase (Ammonia) - metabolism</subject><subject>Errors of metabolism</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mutation</subject><subject>Prenatal Diagnosis</subject><subject>Urea - metabolism</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEFv00AQhVcIVELhzAlpD4ib6azHa697iwqFoFZc4GyNZ8eJ6cYOu45QbvwEfmN_CUaJijhxGmnmm_eenlIvDbw1kOPF8tIAWCxqhBKNeaQWxlaY5WVpH6sFmMJkrrb2qXqW0jcAqJ21Z-qsLl2JBS7U-nYMwvtAUa9lkKlnHSUJRd7ofphGzRRb2o6HcP_z124zpt2GJtHpMEwbSqJXl_qvgpdOeEqaBq9DP9zRWvSW4p3E9Fw96SgkeXGa5-rr9fsvVx-zm88fVlfLm4wLg5DVhoE8m5ywsuILbD17yHOLbJyrMQdg79taynnRcjX7-ZKhLNDUFVOH5-rNUXcXx-97SVOz7RNLCDTIuE-NA0BXGTODF0eQ45hSlK7ZxX4Oe2gMNH-qbZbNP9XOH69O0vt2K_6BP3U531-f7pSYQhdp4D49YDm6Ah3MmD1iP_ogh_-5Np9Wt-_mzIC_ARNxkhk</recordid><startdate>199806</startdate><enddate>199806</enddate><creator>Summar, M. 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L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1998-06</date><risdate>1998</risdate><volume>21</volume><issue>S1</issue><spage>30</spage><epage>39</epage><pages>30-39</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>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. 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| ispartof | Journal of inherited metabolic disease, 1998-06, Vol.21 (S1), p.30-39 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Wiley Online Library Journals Frontfile Complete |
| subjects | Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - genetics Aminoacid disorders Ammonia - blood Biological and medical sciences Carbamoyl-Phosphate Synthase (Ammonia) - chemistry Carbamoyl-Phosphate Synthase (Ammonia) - deficiency Carbamoyl-Phosphate Synthase (Ammonia) - genetics Carbamoyl-Phosphate Synthase (Ammonia) - metabolism Errors of metabolism Genetic Linkage Genetic Markers Humans Infant, Newborn Medical sciences Metabolic diseases Mutation Prenatal Diagnosis Urea - metabolism |
| title | Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers |
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