Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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PRODH AND HYPERPROLINEMIAL - prolinePROLINEDEHYDROGENASEΔ -1- pyrroline - 5 – carboxylate (P5C)Type 1 Hyperprolinemia(MIM 239500)NAD +NADH + H +P5CDEHYDROGENASEType II Hyperprolinemia(MIM 239510)GlutamateCO 2γ aminobutyric acid (GABA)
MISSENSE MUTATIONS IN THE PRODH GENEQ19PR185WT275N ?L289M23 4 5 6 7 89A58T ?R431H R453C T466M Q521E10 11121314 15P406LL441P A455S A472T
Page 1 and 2: !Mental retardation and psychosis i
Page 3: 14,5715,515,615,815,9616,0316,2616,
Page 7 and 8: MOLECULAR BASIS OF TYPE IHYPERPROLI
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11 and 12: VCFS SUBJECTS WITH SEVERE HYPERPROL
Page 13 and 14: SEVERE HYPERPROLINEMIA IS ASSOCIATE
Page 15 and 16: THE OPPOSITE STRATEGY: SEARCH FORPR
Page 17 and 18: TARGETED ANALYSIS28 candidate loci
Page 19 and 20: SUBJECTS 247 patients with mental r
Page 21 and 22: DISEASES ASSOCIATED CNVs: AUTISMID
Page 23 and 24: CONCLUSION• Type I hyperprolinemi

Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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