Mutation analysis of the MCM gene in Israeli patients with mut0 disease

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 107-110

  Berger, Itai ^a   Shaag, Avraham ^a   Anikster, Yair ^a   Baumgartner, E Regula ^b   Bar Meir, Maskit ^a   Joseph, Adina ^a   Elpeleg, Orly N ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Methylmalonyl CoA mutase; Mut0 methylmalonic acidemia

Indexed keywords

GENE PRODUCT; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; PROTEIN MCM; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; ISRAEL; MALE; METHYLMALONIC ACIDURIA; MORTALITY; NEUROLOGIC DISEASE; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0035716878     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3166     Document Type: Article

References (17)

1. Disorders of propionate and methylmalonate metabolism
2. 0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning
3. 0 methylmalonic acidemia
4. Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations
5. Seven novel mutations in mut methylmalonic aciduria
6. 0 patients
7. 0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation
8. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells
9. Activity of the cobalamin dependent methylmalonyl-CoA mutase
10. DNA sequencing with chain-terminating inhibitors
11. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
12. How coenzymes B12 radicals are generated: The crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution
13. Conformational changes on substrate binding to methylmalonyl CoA mutase and new insights into the free radical mechanism
14. Primary structure and activity of mouse methylmalonyl-CoA mutase
15. The complete genome sequence of Escherichia coli K-12
16. - methylmalonic aciduria
17. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia