Literature DB >> 7103079

Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts.

T Page, B Bakay, W L Nyhan.   

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Year:  1982        PMID： 7103079     DOI： 10.1016/0003-2697(82)90263-9

Source DB:  PubMed          Journal:  Anal Biochem        ISSN： 0003-2697            Impact factor:   3.365


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  2 in total

1.  PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

Authors:  Sangwoo T Han; Andrew C Kim; Karolyn Garcia; Lisa A Schimmenti; Ellen Macnamara; Undiagnosed Diseases Network; William A Gahl; May C Malicdan; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2022-02-01       Impact factor: 4.797

2.  Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.

Authors:  F F Snyder; A E Chudley; P M MacLeod; R J Carter; E Fung; J K Lowe
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  2 in total

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