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

Advances in experimental medicine and biology - 1 Jan 1991

Roessler B J, Golovoy N, Palella T D, Heidler S, Becker M A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1664177
DOI: 10.1007/978-1-4615-7703-4_28

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Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.PMID 1664177Read ↗

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

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

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.Semantic proximity Read ↗

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

Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.Semantic proximity Read ↗

Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.Semantic proximity Read ↗

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

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

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.Semantic proximity Read ↗

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

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