The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome
β Scribed by Roland D. Ciaranello; Thomas F. Anders; Jack D. Barchas; Philip A. Berger; Howard M. Cann
- Publisher
- Springer US
- Year
- 1976
- Tongue
- English
- Weight
- 377 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0009-398X
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## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec
## Abstract For Abstract see ChemInform Abstract in Full Text.
We identified the identical large genomic deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene in two Japanese patients with Lesch-Nyhan (LN) syndrome. This deletion spanned from an Alu sequence in the promoter region to another Alu-sequence in intron 1, a length of 2,969 base pairs i
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