Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1-Reference-Cited by-同舟云学术

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Published:2007-09 Issue:3 Volume:81 Page:507-518
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

de Brouwer Arjan P.M.,Williams Kelly L.,Duley John A.,van Kuilenburg André B.P.,Nabuurs Sander B.,Egmont-Petersen Michael,Lugtenberg Dorien,Zoetekouw Lida,Banning Martijn J.G.,Roeffen Melissa,Hamel Ben C.J.,Weaving Linda,Ouvrier Robert A.,Donald Jennifer A.,Wevers Ron A.,Christodoulou John,van Bokhoven Hans

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference53 articles.

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3. Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript;Taira;Biochim Biophys Acta,1989

4. Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase;Becker;J Biol Chem,1996

5. Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases;Becker;J Biol Chem,1987

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