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Article

A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.

Advances in experimental medicine and biology - 1 Jan 1991

Gathof B S, Sahota A, Gresser U, Chen J, Stambrook P S, Tischfield J A, Zöllner N

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 1685862
DOI: 10.1007/978-1-4615-7703-4_18

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.PMID 1685862Read ↗

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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.Semantic proximity Read ↗

[Adenine phosphoribosyltransferase (APRT) deficiency].Semantic proximity Read ↗

Mutational basis of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.Semantic proximity Read ↗

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