Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2006.06076.x/fullpdf
Reference21 articles.
1. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
2. International Committee for Standardization in Haematology: Recommended Methods for Red-Cell Enzyme Analysis
3. Hematologically Important Mutations: Red Cell Pyruvate Kinase (Third Update)
4. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia
5. G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection
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