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- Title
Mutations in the Δ[sup 1]-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
- Authors
Geraghty, Michael T.; Vaughn, D.; Nicholson, A. J.; Jimenez‐Sanchez, Wei‐Wen Lin2, Gerardo; Obie, Cassandra; Flynn, M. P.; Valle, David; Hu, Chien‐an A.
- Abstract
Discusses the molecular analysis of Delta[sub 1]-pyrroline 5-carboxylate dehydrogenase (P5CDh) in four unrelated patients with type II hyperprolinemia and the functional consequences of mutations in the P5CDh gene when expressed in a 5PCDh-deficient strain of Saccharomyces cerevisiae. Direct sequence analysis of genomic DNA; Reverse transcription of P5CDh.
- Subjects
DEHYDROGENASES; HYPERPROLACTINEMIA; MUTAGENESIS; GENETIC transcription; GENE expression; GENETICS
- Publication
Human Molecular Genetics, 1998, Vol 7, Issue 9, p1411
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/7.9.1411