The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2003-01, Vol.40 (1), p.e7-7
Hauptverfasser:	Jacquet, H, Berthelot, J, Bonnemains, C, Simard, G, Saugier-Veber, P, Raux, G, Campion, D, Bonneau, D, Frebourg, T
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - etiology Amino Acid Metabolism, Inborn Errors - genetics Child, Preschool Children & youth Chromosome Deletion Chromosome Mapping - methods Chromosomes Chromosomes, Human, Pair 22 - genetics Consanguinity Creatinine Dehydrogenases deletion Enzymes Epilepsy Genes Homozygote Humans hyperprolinaemia Intellectual disabilities Male mental retardation Metabolic disorders Mutation Online Mutation Report Phenotype PRODH Proline - blood Proline - metabolism Proline Oxidase - deficiency Proline Oxidase - genetics Proline Oxidase - metabolism Urine
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