The severe form of type I hyperprolinaemia results...[J Med Genet. 2003]

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1: J Med Genet. 2003 Jan;40(1):e7. Links

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

INSERM EMI 9906-IFRMP, Faculty of Medicine, Rouen, France.

PMID: 12525555 [PubMed - indexed for MEDLINE]

PMCID: PMC1735267

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.
J Inherit Metab Dis. 2000 Dec; 23(8):847-8.

[J Inherit Metab Dis. 2000]
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.
Hum Genet. 1997 Nov; 101(1):69-74.

[Hum Genet. 1997]
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Brain Dev. 2007 Oct; 29(9):547-52. Epub 2007 Apr 6.

[Brain Dev. 2007]
Review[Hyperprolinemia type I]
Ryoikibetsu Shokogun Shirizu. 1998; (18 Pt 1):152-4.

[Ryoikibetsu Shokogun Shirizu. 1998]
Review[Hyperprolinemia]
Ryoikibetsu Shokogun Shirizu. 2001; (33):838-9.

[Ryoikibetsu Shokogun Shirizu. 2001]
» See reviews... | » See all...

Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.
Kempf L, Nicodemus KK, Kolachana B, Vakkalanka R, Verchinski BA, Egan MF, Straub RE, Mattay VA, Callicott JH, Weinberger DR, et al. PLoS Genet. 2008 Nov; 4(11):e1000252. Epub 2008 Nov 7.

[PLoS Genet. 2008]
Functional consequences of PRODH missense mutations.
Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Am J Hum Genet. 2005 Mar; 76(3):409-20. Epub 2005 Jan 20.

[Am J Hum Genet. 2005]

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