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Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia
Authors:Geraghty, MT   Vaughn, D   Nicholson, AJ   Lin, WW   Jimenez-Sanchez, G   Obie, C   Flynn, MP   Valle, D   Hu, CA
Affiliation:Institute for Genetic Medicine, Department of Pediatrics, Predoctoral Training Program in Human Genetics and Molecular Biology and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
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