Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome-Reference-Cited by-同舟云学术

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome

Published:2008-06-28 Issue:2 Volume:48 Page:80-84
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Renwick P. J.,Birley A. J.,McKeown C. M. E.,Hultén M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb04060.x/fullpdf

Reference24 articles.

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2. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts;Davidson;J Clin Invest,1989

3. Hypoxanthine-guanine phosphoribosyltransferase: genetic evidence for identical mutations in two partially deficient subjects;Davidson;J Clin Invest,1988a

4. Genetic basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with Lesch-Nyhan syndrome (HPRTflint);Davidson;Gene,1988b

5. A comprehensive set of sequence analysis programs for the Vax;Devereux;Nucl Acids Res,1984

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