Identification of a single nucleotide substitution in the coding sequence ofin vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisbane)-Reference-Cited by-同舟云学术

Identification of a single nucleotide substitution in the coding sequence ofin vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisbane)

Published:1990-09 Issue:5 Volume:13 Page:692-700
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gordon R. B.,Sculley D. G.,Dawson P. A.,Beacham I. R.,Emmerson B. T.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799570

Reference24 articles.

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2. Busetta, B. The use of folding patterns in the search for protein structural similarities; a three-dimensional model of phosphoribosyltransferases.Biochim. Biophys. Acta 957 (1988) 21–33

3. Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J. and Rutter, W. J. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.Biochemistry 18 (1979) 5294–5299

4. Davidson, B. L., Tarle, S. A., Palella, T. D. and Kelley, W. N. Molecular basis of hypoxanthineguanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.J. Clin. Invest. 84 (1989) 342–346

5. Emmerson, B. T. and Thompson, L. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.Q. J. Med. 42 (1973) 423–440

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