Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia

Author:

Kumari Chandrawati,Kapoor Seema,Varughese Bijo,Pollipali Sunil Kumar,Ramji Siddarth

Funder

ICMR

CSIR

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry

Reference30 articles.

1. Ledley FD, Lumetha MR, Zoghbi HY, Van Tuinen P, Ledbetter SA, Ledbetter DH. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet. 1988;42(6):839–46.

2. Nham SU, Wilkemeyer MF, Ledley FD. Structure of the human methylmalonyl-CoA mutase (MUT) locus. Genomics. 1990;8(4):710–6.

3. Jansen R, Ledley FD. Heterozygous mutations at the mut locus in fibroblast with mut0 methylmalonic academia identified by polymerase-chain-reaction cDNA cloning. Am J Hum Genet. 1990;47(5):808–14.

4. Thoma NH, Leadlay PF. Homology modeling of human methylmalonyl-CoA mutase:a structural basis for point mutations causing methylmalonic aciduria. Protein Sci. 1996;5(9):1922–7.

5. Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, et al. Seven novel mutations in mut methylmalonic aciduria. Hum Mutat. 1998;11(4):270–4.

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