Frequency Distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT Variant Alleles in an Indian Galactosemia Population

Author:

Singh Ramandeep,Thapa Babu R.,Kaur Gurjit,Prasad Rajendra

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine,Ecology, Evolution, Behavior and Systematics,Biochemistry

Reference26 articles.

1. Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin H, Reichardt J, Ishiki G (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat 6:36–43

2. Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia. J Lab Clin Med 68:137–141

3. Daly AK, Steen VM, Fairbrother KS, Idle JR (1996) CYP2D6 multiallelism. Method Enzymol 272:199–210

4. Elsas LJ, Fridovich-Keil JL, Leslie N (1993) Galactosemia: a molecular approach to the enigma. Int Pediatr 8:101–109

5. Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP (1995a) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56:630–639

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