Author:
Al-Maawali Almundher, ,Dupuis Lucie,Blaser Susan,Heon Elise,Tarnopolsky Mark,Al-Murshedi Fathiya,Marshall Christian R,Paton Tara,Scherer Stephen W,Roelofsen Jeroen,van Kuilenburg André BP,Mendoza-Londono Roberto
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. Becker MA : Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. Prog Nucleic Acid Res Mol Biol 2001; 69: 115–148.
2. Arts WF, Loonen MC, Sengers RC, Slooff JL : X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 1993; 33: 535–539.
3. Kim HJ, Sohn KM, Shy ME et al: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet 2007; 81: 552–558.
4. Lalwani AK, Brister JR, Fex J et al: A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet 1994; 55: 685–694.
5. Roessler BJ, Nosal JM, Smith PR et al: Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. J Biol Chem 1993; 268: 26476–26481.
Cited by
31 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献