High frequency of missense mutations in glycogen storage disease type VI
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0499-9
Reference26 articles.
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3. Bonfield JK, Rada C, Staden R (1998) Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res 26: 3404–3409.
4. Bruno C, Cassandrini D, Martinuzzi A, et al (2006) McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat 27: 718.
5. Buchbinder JL, Rath VL, Fletterick RJ (2001) Structural relationships among regulated and unregulated phosphorylases. Annu Rev Biophys Biomol Struct 30: 191–209.
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