Mutation analysis of the MCM gene in Korean patients with MMA

Molecular Genetics and Metabolism

Volumn 84, Issue 4, 2005, Pages 367-370

  Jung, Jo Won ^a   Hwang, Il Tae ^b   Park, Jun Eun ^a   Lee, Eun Ha ^a   Ryu, Kyung Hwa ^a   Kim, Sung Hwan ^a   Hwang, Jin Soon ^a  

^a Ajou University School of Medicine   (South Korea)

^b Hallym University   (South Korea)

Author keywords

Korean; Methylmalonic acidemia; Methylmalonyl CoA mutase; Mutation

Indexed keywords

METHYLMALONYL COENZYME A MUTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HUMAN; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

EID: 15244338723     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.11.002     Document Type: Article

References (16)

1. W.A. Fenton, R.A. Gravel, and D.S. Rosenblatt Disorders of propionate and methylmalonate metabolism eight ed. C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The metabolic and molecular bases of inherited disease 2001 McGraw-Hill 2165 2193
2. 12-responsive methylmalonic academia based on analysis of prokaryotic gene arrangements Proc. Natl. Acad. Sci. USA 99 2002 15554 15559
3. 12-dependent methylmalonic aciduria Hum. Mol. Genet. 11 2002 3361 3369
4. H.L. Peters, and M. Nefedov Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations Hum. Mutat. 20 2002 406 500
5. S.U. Nham, M.F. Wilkemeyer, and F.D. Ledley Structure of the human methylmalonyl-CoA mutase (MUT) locus Genomics 8 1990 710 716
6. V. Champattanachai, and J.K. Cairns Novel mutations in a Thai patient with methylmalonic academia Mol. Genet. Metab. 79 2003 300 302
7. M. Ogasawara, and Y. Matsubara Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonyl acidemia Hum. Mol. Genet. 3 1994 867 872
8. 0 patients J. Hum. Genet. 44 1999 35 39
9. H.F. Willard, and L.M. Ambani Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells Hum. Genet. 34 1976 277 283
10. F.D. Ledley, M.A. Crane, and M. Lumetta Heterogenous alleles and expression of methylmalonyl CoA mutase in mut methylmalonyl academia Am. J. Hum. Genet. 46 1990 539 547
11. I. Berger, and A. Shaag Mutation analysis of the MCM gene in Israeli patients with mut (0) disease Mol. Genet. Metab. 73 2001 107 110
12. C.E. Adjalla, A.R. Hosack, and D.S. Rosenblatt Seven novel mutations in mut methylmalonic aciduria Hum. Mutat. 11 1998 270 274
13. F.D. Ledley, and M.R. Lumetta Mapping of human methylmalonyl-CoA mutase (MUT) locus on chromosome 6 Am. J. Hum. Genet. 42 1988 839 846
14. - methylmalonic aciduria Hum. Mutat. S1 1998 S248 S250
15. 9 forms of methylmalonic acidemia in Caucasian patients Eur. J. Hum. Genet. 9 2001 577 582
16. - phenotype: evidence for naturally occurring interallelic complementation Hum. Mol. Genet. 6 1997 1457 1464