Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00281694.pdf
Reference28 articles.
1. van Acker KJ, Simmonds HA, Potter C, Cameron JS (1977) Complete deficiency of adenine phosphoribosyltransferase: Report of a family. N Engl J Med 297:127?132
2. Alford BL, Barnes EM (1976) Hypoxanthine transport by cultured Chinese hamster lung fibroblasts. J Biol Chem 251:4823?4827
3. Barratt TM, Simmonds HA, Cameron JS, Potter CF, Rose GA, Arkell DG, Williams DI (1979) Complete deficiency of adenine phosphoribosyltransferase: A third case presenting as renal stones in a young child. Arch Dis Child 54:25?31
4. B�yum A (1968) Separation of leucocytes from blood and bone marrow. Scand J Clin Lab Invest 21 [Suppl 97]:1?109
5. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem 72:248?254
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