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Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

Human molecular genetics - 1 Sept 1998

Geraghty M T, Vaughn D, Nicholson A J, Lin W W, Jimenez-Sanchez G, Obie C, Flynn M P, Valle D, Hu C A

Abstract excerpt

We surveyed Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II using RT-PCR amplification, genomic PCR amplification and direct sequencing. We found four mutant alleles, two with frameshift mutations [A7fs(-1) and G521fs(+1)] and two with missense mutations (S352L and P16L). To test the functional consequences of three of these, we expressed them in a...

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PMID: 9700195
DOI: 10.1093/hmg/7.9.1411

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

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