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Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phosphoribosyl transferase in families of Lesch-Nyhan patients

✍ Scribed by K. Itiaba; S.B. Melançon; L. Dallaire; J.C. Crawhall


Book ID
115766689
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
417 KB
Volume
19
Category
Article
ISSN
0006-2944

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We have determined the structure, at the nucleotide sequence level, of a duplication in the hprt gene in a patient with Lesch-Nyhan syndrome (LN). The duplication extends over exons 7 and 8 and approximately 1.8 kb of the surrounding hprt sequence. The duplication junction is localized within two Al