A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family-Reference-Cited by-同舟云学术

A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family

Published:2008-01-22 Issue:1 Volume:31 Page:97-107
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Chhay J. S.,Openo K. K.,Eaton J. S.,Gentile M.,Fridovich-Keil J. L.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-007-0786-5

Reference25 articles.

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2. Bosch A (2006) Classical galactosaemia revisited. J Inherit Metab Dis. 29: 516–525.

3. Calderon F, Nelson L, Dobrowolski P, et al (2007) Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis. 30: 318.

4. Christacos N, Fridovich-Keil J (2002) Impact of patient mutations on heterodimer formation and function in human galactose-1P uridylyltransferase. Mol Genet Metab. 76: 319–326.

5. Elsevier JP, Fridovich-Keil JL (1996) The Q188R mutation in human galactose-1 phosphate uridylyltransferase acts as a partial dominant negative. J Biol Chem 271: 32002–32007.

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