Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
Author:
Affiliation:
1. ; Medizinische Poliklinik, Klinikum Innenstadt; Ludwig-Maximilians-Universität München; Pettenkoferstraße 8a München D-80336 Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005352605421/fullpdf
Reference30 articles.
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3. Myoadenylate deaminase deficiency;Goebel;Klin Wochenschr,1987
4. New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency;Gross;Ann Rheum Dis,1994
5. Influence of D-ribose administration on the exercise-induced increase in hypoxanthine excretion;Gross;Ann Nutr Metab,1989
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