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Literature DB >> 6785519

Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.

Abstract

We have examined the possibility of genetic heterogeneity in citrullinaemia by measuring the incorporation of [14C]citrulline into protein in PEG-induced heterokaryons derived from paired combinations of fibroblasts from eight patients with varying forms of the disease. The results are compatible with interallelic, but not intergenic, complementation in several of these fusions.

Entities: Chemical Species

Mesh：

Substances：
Citrulline

Year: 1981 PMID： 6785519 DOI： 10.1007/BF02263577

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

14 in total

1. Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.

Authors: E Spector; N Kennaway; H Punnett; A E Greene; L L Coriell
Journal: Cytogenet Cell Genet Date: 1977

2. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors: H F Willard; I S Mellman; L E Rosenberg
Journal: Am J Hum Genet Date: 1978-01 Impact factor: 11.025

2. Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.

Authors: M K Wirtz; N G Kennaway; R G Weleber
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

2 in total

Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.

1. Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.

2. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

3. Citrullinemia: phenotypic variations.

4. Citrullinemia, report of a case, with studies on antenatal diagnosis.

5. Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis.

6. [Citrullinemia].

7. In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain.

8. Studies of rat liver argininosucciante synthetase. I. Physicochemical, catalytic, and immunochemical properties.

9. Citrullinemia. A preliminary case report.

10. Citrullinemia.

1. Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

2. Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.