Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

Author:

Brown Justin T,Lahey Cora,Laosinchai-Wolf Walairat,Hadd Andrew G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference43 articles.

1. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E: The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics. 1989, 4 (1): 87-96.

2. Grabowski GA: Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005, 17 (4): 519-524.

3. Beutler E, Gelbart T, Kuhl W, Sorge J, West C: Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci U S A. 1991, 88 (23): 10544-10547.

4. Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, Barton NW, Abrahamov A, Zimran A: Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet. 1993, 53 (4): 921-930.

5. Tayebi N, Cushner S, Sidransky E: Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Am J Hum Genet. 1996, 59 (3): 740-741.

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