Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family
Author:
Funder
International Center for Genetic Engineering and Biotechnology
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/article/10.1007/s11033-018-4426-y/fulltext.html
Reference25 articles.
1. Dziezyc K et al (2014) Families with Wilson’s disease in subsequent generations: clinical and genetic analysis. Mov Disord 29(14):1828–1832
2. Weiss KH et al (2010) Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis 33(Suppl 3):S233–S240
3. Gupta A (2015) Low-density oligonucleotide microarrays—a major step in Wilson’s disease diagnosis. Indian J Med Res 141(2):145–147
4. Olivarez L et al (2001) Estimate of the frequency of Wilson’s disease in the US Caucasian population: a mutation analysis approach. Ann Hum Genet 65(Pt 5):459–463
5. Mak CM et al (2008) Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet 53(1):55–63
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