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Article

Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

1 Nov 1990

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1962753
DOI: 10.1016/0888-7543(90)90043-t

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Related research

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Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genesPMID 1962753Read ↗

Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.Semantic proximity Read ↗

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.Semantic proximity Read ↗

A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon.Semantic proximity Read ↗

Overexpression of the Normal Phosphoribosylpyrophosphate Synthetase 1 Isoform Underlies Catalytic Superactivity of Human Phosphoribosylpyrophosphate SynthetaseSemantic proximity Read ↗

PRPS1 mutations: four distinct syndromes and potential treatment.Semantic proximity Read ↗

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.Semantic proximity Read ↗

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.Semantic proximity Read ↗

Association of PRPS1 Mutations with Disease Phenotypes.Semantic proximity Read ↗

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.Semantic proximity Read ↗

Accelerated Transcription of PRPS1 in X-linked Overactivity of Normal Human Phosphoribosylpyrophosphate SynthetaseSemantic proximity Read ↗

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in femalesSemantic proximity Read ↗

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Semantic proximity Read ↗

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