The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

Author:

Jinnah H.A.,De Gregorio Laura,Harris James C.,Nyhan William L.,O’Neill J.Patrick

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics

Reference92 articles.

1. H.A. Jinnah, T. Friedmann, Lesch–Nyhan disease and its variants, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2000.

2. Comparative gene mapping: order of loci on the X chromosome is different in mice and humans;Franke;Proc. Natl. Acad. Sci. U. S. A.,1980

3. Localization of genes coding for PGK, HPRT, and G6PD on the long arm of the X chromosome in somatic cell hybrids;Shows;Cytogenet. Cell Genet.,1975

4. Fine structure of the human hyoxanthine phosphoribosyltransferase gene;Patel;Mol. Cell Biol.,1986

5. The organization of the human HPRT gene;Kim;Nucl. Acids Res.,1986

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