Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

@article{Aral1996NovelNM,
  title={Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.},
  author={Bernard Aral and Genevi{\`e}ve de Saint Basile and Sami Al-Garawi and Pierre P. Kamoun and Ir{\`e}ne Ceballos-Picot},
  journal={Human mutation},
  year={1996},
  volume={7 1},
  pages={
          52-8
        }
}
Lesch-Nyhan (LN) disease is a severe X-linked recessive neurological disorder associated with a loss of hypoxanthine guanine phosphoribosyltransferase activity (HPRT, EC 2.4.2.8). We have studied the second example of a female patient with LN disease. The molecular basis of HPRT deficiency in this patient was a previously undescribed nucleotide substitution in exon 6. In this gene, designated HPRT PARIS, a single nucleotide substitution from T to G at base position 558 changed a tyrosine (TAT… CONTINUE READING

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