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Wiley, Journal of Inherited Metabolic Disease, 3(34), p. 731-739, 2011

DOI: 10.1007/s10545-011-9319-3

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Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

This paper is available in a repository.
This paper is available in a repository.

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