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THE PURINE REQUIREMENT OF CELLS CULTURED FROM HUMANS AFFECTED WITH THE LESCH-NYHAN SYNDROME (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY)

Humans with the Lesch-Nyhan syndrome have an X-chromosomal mutant gene that causes severe neurological and developmental abnormalities. The patients are deficient in hypoxanthine-guanine phosphoribosyltransferase, which converts hypoxanthine to inosinic acid, a major precursor of adenine and guanine...

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Xehetasun bibliografikoak
Argitaratua izan da:Proc Natl Acad Sci U S A
Egile Nagusiak: Felix, Jeanette S., DeMars, Robert
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 1969
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC277836/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5256231/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.62.2.536
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